Search filters

List of works by Renzo Guerrini

22q11.2 Microduplication syndrome and epilepsy with continuous spikes and waves during sleep (CSWS). A case report and review of the literature

scientific article

7T Epilepsy Task Force Consensus Recommendations on the use of 7T in Clinical Practice

scientific article published on 22 December 2020

7T MRI in focal epilepsy with unrevealing conventional field strength imaging.

scientific article published on 18 January 2016

A 7 Mb duplication at 22q13 in a girl with bipolar disorder and hippocampal malformation

scientific article published in July 2008

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations.

scientific article

A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal Migration

scientific article published on 01 December 2018

A case-control collapsing analysis identifies epilepsy genes implicated in trio sequencing studies focused on de novo mutations

scientific article published on 29 November 2017

A developmental and genetic classification for malformations of cortical development: update 2012

scientific article

A duplication in 1q21.3 in a family with early onset and childhood absence epilepsy

scientific article published on 24 September 2010

A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2.

scientific article

A new rapid micromethod for the assay of phenobarbital from dried blood spots by LC-tandem mass spectrometry

scientific article published on 20 July 2009

A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG)

scientific article published on 10 August 2020

A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3.

scientific article published on 18 September 2019

A novel inherited SCN1A mutation associated with different neuropsychological phenotypes: Is there a common core deficit?

article published in 2015

A pharmacokinetic study and correlation with clinical response of rufinamide in infants with epileptic encephalopathies.

scientific article published on 24 May 2013

A prospective study of direct medical costs in a large cohort of consecutively enrolled patients with refractory epilepsy in Italy

scientific article published on 4 June 2015

A randomized phase III trial of adjunctive zonisamide in pediatric patients with partial epilepsy

scientific article published on 9 July 2013

A rapid liquid chromatography tandem mass spectrometry-based method for measuring propranolol on dried blood spots

scientific article published on 4 February 2013

A systems-level analysis highlights microglial activation as a modifying factor in common forms of human epilepsy

A versatile clearing agent for multi-modal brain imaging

scientific article published on 7 May 2015

Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options

scientific article published on 08 February 2008

Abnormal phonologic processing in familial lateral temporal lobe epilepsy due to a new LGI1 mutation

scientific article

Acute symptomatic seizures--should we retain the term?

scientific article published on 01 April 2010

Adjunctive zonisamide therapy in the long-term treatment of children with partial epilepsy: results of an open-label extension study of a phase III, randomized, double-blind, placebo-controlled trial

scientific article published on 22 February 2014

Advancing research toward faster diagnosis, better treatment, and end of stigma in epilepsy

scientific article published on 18 June 2019

Age-related differences in audiovisual interactions of semantically different stimuli

scientific article

Age-related epileptic encephalopathies

scientific article published on January 1, 2012

Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly

scientific article published on 19 April 2018

Angelman syndrome: etiology, clinical features, diagnosis, and management of symptoms

scientific article published on January 2003

Antiepileptic Drug Treatment in Children with Epilepsy

scientific article

Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.

scientific article

Atypical Ocular Coloboma in Tuberous Sclerosis-2: Report of Two Novel Cases

scientific article published on 26 October 2020

Atypical face shape and genomic structural variants in epilepsy

scientific article published on 13 September 2012

Autism with seizures and intellectual disability: possible causative role of gain-of-function of the inwardly-rectifying K+ channel Kir4.1.

scientific article published on 31 March 2011

Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.

scientific article

Automatic detection and sonification of nonmotor generalized onset epileptic seizures: Preliminary results

scientific article published on 19 July 2019

Autosomal dominant cortical myoclonus and epilepsy (ADCME) with linkage to chromosome 2p11.1-q12.2.

scientific article

Autosomal dominant early-onset cortical myoclonus, photic-induced myoclonus, and epilepsy in a large pedigree

scientific article published in October 2006

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2

scientific article

Basal ganglia dysmorphism in patients with Aicardi syndrome

scientific article published on 04 December 2020

Benign childhood focal epilepsies

scientific article published on September 2012

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

scientific article

Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course

scientific article published on 01 December 2019

Bilateral frontoparietal polymicrogyria, Lennox-Gastaut syndrome, and GPR56 gene mutations

scientific article

Bilateral perisylvian polymicrogyria with cerebellar dysplasia and ectopic neurohypophysis

scientific article published on 27 January 2011

Bilateral periventricular nodular heterotopia due to filamin 1 gene mutation: widespread glomeruloid microvascular anomaly and dysplastic cytoarchitecture in the cerebral cortex

scientific article

Biochemical data from the characterization of a new pathogenic mutation of human pyridoxine-5'-phosphate oxidase (PNPO).

scientific article published on 28 October 2017

Biotinidase deficiency due to a de novo mutation or gonadal mosaicism in a first child

scientific article published on 18 March 2015

Borderline Dravet syndrome: a useful diagnostic category?

scientific article published on April 2011

Brain MRI findings in severe myoclonic epilepsy in infancy and genotype-phenotype correlations.

scientific article published on 22 March 2007

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Broadening phenotype of adenylosuccinate lyase deficiency: A novel clinical pattern resembling neuronal ceroid lipofuscinosis

scientific article published on 21 August 2019

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life.

scientific article published on 11 February 2011

Can we increase the likelihood of success for future association studies in epilepsy?

scientific article published on 01 October 2006

Changes in appearance of cortical formation abnormalities in the foetus detected on sequential in utero MR imaging

scientific article published on 04 September 2020

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

scientific article

Characteristics of a large population of patients with refractory epilepsy attending tertiary referral centers in Italy

scientific article published on 03 February 2010

Characterization of mutations in the gene doublecortin in patients with double cortex syndrome

scientific article

Characterization of severe action myoclonus in sialidoses

scientific article published on 16 February 2011

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

scientific article published on 15 February 2017

Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.

scientific article published on 20 February 2018

Clinical and genetic study of a family with a paternally inherited 15q11-q13 duplication

Clinical and imaging heterogeneity of polymicrogyria: a study of 328 patients

scientific article

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

scientific article published on 8 February 2018

Clinical and polygraphic study of familial paroxysmal kinesigenic dyskinesia with PRRT2 mutation.

scientific article published in June 2013

Clinical features and outcome of 6 new patients carrying de novo KCNB1 gene mutations

scientific article published on 11 December 2017

Clinical relevance of short-chain acyl-CoA dehydrogenase (SCAD) deficiency: Exploring the role of new variants including the first SCAD-disease-causing allele carrying a synonymous mutation.

scientific article

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

Clinical, MRI, and pathological features of polymicrogyria in chromosome 22q11 deletion syndrome

scientific article published in June 2004

Co-occurring malformations of cortical development and SCN1A gene mutations

scientific article published on 5 June 2014

Cognitive development in Dravet syndrome: A retrospective, multicenter study of 26 patients

scientific article published in January 2011

Cognitive outcome after epilepsy surgery in children: A controlled longitudinal study

scientific article published on 9 June 2017

Comparative efficacy of antiepileptic drugs in children and adolescents: A network meta-analysis

scientific article published on 22 December 2017

Computer-based automatic identification of neurons in gigavoxel-sized 3D human brain images

scientific article published in August 2015

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

scientific article published on 13 May 2016

Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms

scientific article published on 10 December 2010

Copy number variants and infantile spasms: evidence for abnormalities in ventral forebrain development and pathways of synaptic function

scientific article published on 22 June 2011

Corpus callosum agenesis, severe mental retardation, epilepsy, and dyskinetic quadriparesis due to a novel mutation in the homeodomain of ARX

article

Correction to: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 July 2019

Correction: The landscape of epilepsy-related GATOR1 variants

scientific article published on 01 August 2019

Corrigendum to "Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study" [Epilepsy Behav. Oct 2017; 75C:151-157].

scientific article published in March 2018

Corrigendum to "Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation" [Mol. Genet. Metab. 122/1-2 (2017) 135-142]

scientific article published on 14 March 2018

Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.

scientific article published on 31 October 2006

Cortical formation abnormalities on foetal MR imaging: a proposed classification system trialled on 356 cases from Italian and UK centres

scientific article published on 13 May 2020

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 18 October 2018

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias

scientific article published on 01 March 2019

De novo CLTC variants are associated with a variable phenotype from mild to severe intellectual disability, microcephaly, hypoplasia of the corpus callosum, and epilepsy

scientific article published on 28 November 2019

De novo KCNA1 variants in the PVP motif cause infantile epileptic encephalopathy and cognitive impairment similar to recurrent KCNA2 variants

scientific article published on 28 July 2018

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

scientific article published on 31 January 2020

De novo Variants In Neurodevelopmental Disorders With Epilepsy

De novo and inherited private variants in MAP1B in periventricular nodular heterotopia.

scientific article

De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

scientific article

De novo mutations of the ATP6V1A gene cause developmental encephalopathy with epilepsy.

scientific article

De novo variants in neurodevelopmental disorders with epilepsy

scientific article published on 25 June 2018

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

scientific article published on 25 August 2017

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy

scientific article published on 10 December 2019

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

scientific article published on 19 November 2018

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

scientific article

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.

scientific article

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

scientific article published on 03 August 2021

Detection of doxorubicin hydrochloride accumulation in the rat brain after morphine treatment by mass spectrometry

scientific article published on 25 August 2010

Development and validation of a 2nd tier test for identification of purine nucleoside phosphorylase deficiency patients during expanded newborn screening by liquid chromatography-tandem mass spectrometry

scientific article

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome

scientific article published on 21 September 2020

Diagnosis of immunodeficiency caused by a purine nucleoside phosphorylase defect by using tandem mass spectrometry on dried blood spots

scientific article published on 24 April 2014

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes.

scientific article published on 19 November 2016

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

Diagnostic methods and treatment options for focal cortical dysplasia

scientific article

Different genotypes in a large Italian family with recurrent hereditary fructose intolerance.

scientific article

Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy

scientific article

Diffuse malformations of cortical development

scientific article published on January 2013

Disruption of neural progenitors along the ventricular and subventricular zones in periventricular heterotopia

scientific article

Do mutations in SCN1B cause Dravet syndrome?

scientific article

Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations.

scientific article published on 25 October 2016

Dravet syndrome and SCN1A gene mutation related-epilepsies: cognitive impairment and its determinants

scientific article published on April 2011

Dravet syndrome and other sodium channel-related encephalopathies

scientific article published on 01 December 2019

Dravet syndrome as part of the clinical and genetic spectrum of sodium channel epilepsies and encephalopathies

scientific article published on 01 December 2019

Dravet syndrome: Not just epilepsy

scientific article published on 17 June 2016

Dravet syndrome: Treatment options and management of prolonged seizures

scientific article published on 01 December 2019

Dried blood spot assay for the quantification of phenytoin using Liquid Chromatography-Mass Spectrometry.

scientific article

Drosophila functional screening of de novo variants in autism uncovers damaging variants and facilitates discovery of rare neurodevelopmental diseases

scientific article published on 01 March 2022

Drug Development for Rare Paediatric Epilepsies: Current State and Future Directions

scientific article published on 01 December 2019

Dysgraphia as a Mild Expression of Dystonia in Children with Absence Epilepsy

scientific article published on July 2015

Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.

scientific article published on 12 March 2008

Early Diagnosis and Monitoring of Neurodegenerative Langerhans Cell Histiocytosis

scientific article published on 15 July 2015

Early and effective treatment of KCNQ2 encephalopathy.

scientific article

Early clinical features in Dravet syndrome patients with and without SCN1A mutations

Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations

scientific article published on 02 January 2020

Early visual seizures and progressive myoclonus epilepsy in neuronopathic Gaucher disease due to a rare compound heterozygosity (N188S/S107L)

scientific article published on 01 September 2004

Early-onset absence epilepsy and paroxysmal dyskinesia

scientific article published in October 2002

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.

scientific article published in September 2009

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

scientific article published on 6 January 2016

Efficacy and safety of Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: A real-world study

scientific article published on 18 September 2020

Efficacy and safety of ketamine in refractory status epilepticus in children

scientific article published on 28 November 2012

Efficacy of ketamine in refractory convulsive status epilepticus in children: a protocol for a sequential design, multicentre, randomised, controlled, open-label, non-profit trial (KETASER01)

scientific article published on 15 June 2016

Electrophysiological characterization of spontaneous and carbamazepine-induced epileptic negative myoclonus in benign childhood epilepsy with centro-temporal spikes

scientific article published on January 2004

Emerging Role of the Autophagy/Lysosomal Degradative Pathway in Neurodevelopmental Disorders With Epilepsy

scientific article published on 13 March 2020

Epilepsy and malformations of the cerebral cortex

scientific article published on 01 September 2003

Epilepsy and paroxysmal dyskinesia: co-occurrence and differential diagnosis

scientific article

Epilepsy in Rett syndrome, and CDKL5‐ and FOXG1‐gene–related encephalopathies ⬇️

scientific article published on September 21, 2012

Epilepsy in ring chromosome 20 syndrome

scientific article

Epilepsy of infancy with migrating focal seizures or rigidity and multifocal seizure syndrome, lethal neonatal? Different emphases on a severe phenotype

scientific article published on 26 December 2019

Epilepsy surgery in Neurofibromatosis Type 1.

scientific article published on 16 April 2013

Epilepsy surgery of "low grade epilepsy associated neuroepithelial tumors": A retrospective nationwide Italian study

scientific article published on 14 August 2017

Epileptic syndromes and visually induced seizures

scientific article published on January 2004

Epileptogenic brain malformations: clinical presentation, malformative patterns and indications for genetic testing

scientific article (publication date: April 2002)

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B<sub>12</sub>

scientific article published on 19 April 2022

Erratum: Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

article

Evaluation of carisbamate, a novel antiepileptic drug, in photosensitive patients: an exploratory, placebo-controlled study

scientific article published on 19 April 2007

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

scientific article published on 04 October 2019

Experimental designs for small randomised clinical trials: an algorithm for choice

scientific article published on 25 March 2013

Expression of glutamine synthetase in balloon cells: a basis of their antiepileptic role?

scientific article published on 01 March 2015

Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

scientific article

Extracellular LGALS3BP regulates neural progenitor position and relates to human cortical complexity

scientific article published on 02 November 2021

Extremely sustained startle-induced clonus: non epileptic motor attacks mimicking clonic seizures in children with encephalopathy

scientific article published on 12 November 2011

Familial Lennox-Gastaut syndrome in male siblings with a novel DCX mutation and anterior pachygyria

scientific article published on 01 September 2010

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

Familial dominant epilepsy and mild pachygyria associated with a constitutional LIS1 mutation

scientific article published on 25 August 2018

Familial periventricular nodular heterotopia, epilepsy and Melnick-Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

scientific article published on 9 March 2015

Fast Progression of Cerebellar Atrophy in PLA2G6-Associated Infantile Neuronal Axonal Dystrophy.

scientific article published on 14 January 2017

Fenfluramine hydrochloride for the treatment of seizures in Dravet syndrome: a randomised, double-blind, placebo-controlled trial

scientific article published on 17 December 2019

Focal Cortical Dysplasia IIIa in Hippocampal Sclerosis-Associated Epilepsy: Anatomo-Electro-Clinical Profile and Surgical Results From a Multicentric Retrospective Study

scientific article published on 29 August 2020

Focal cortical dysplasia type IIb in the rolandic cortex: functional reorganization after early surgery documented by passive task functional MRI.

scientific article published on 12 June 2012

Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy

scientific article

Functional and pharmacological evaluation of novel GLA variants in Fabry disease identifies six (two de novo) causative mutations and two amenable variants to the chaperone DGJ.

scientific article published on 21 February 2018

Functional characterization of a novel C-terminal ATP1A2 mutation causing hemiplegic migraine and epilepsy.

scientific article published on 9 July 2013

GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings

scientific article published on 7 April 2011

GNAO1 encephalopathy: Broadening the phenotype and evaluating treatment and outcome.

scientific article

Galactosialidosis: review and analysis of CTSA gene mutations

scientific article published on 02 August 2013

Gene family information facilitates variant interpretation and identification of disease-associated genes

article

Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders

scientific article published on 17 March 2020

Generalized epilepsies

scientific article published on 01 January 2019

Generalized epilepsy with febrile seizures plus (GEFS+): clinical spectrum in seven Italian families unrelated to SCN1A, SCN1B, and GABRG2 gene mutations

scientific article published on February 2004

Genetic Basis of Brain Malformations

scientific article

Genetic and neuroradiological heterogeneity of double cortex syndrome

article

Genetic epilepsy syndromes without structural brain abnormalities: clinical features and experimental models

scientific article

Genetic heterogeneity in infantile spasms

scientific article published on 29 July 2019

Genetic malformations of cortical development

scientific article (publication date: August 2006)

Genetic malformations of the cerebral cortex and epilepsy

scientific article (publication date: 2005)

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

scientific article published on 29 January 2013

Genetic testing to prevent adverse reactions to antiepileptic drugs: Primum non nocere

scientific article published on 29 December 2017

Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism-epilepsy phenotype.

scientific article published on 2 May 2014

Genetics of epilepsy: epilepsy research foundation workshop report

scientific article published in June 2007

Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.

scientific article published on 17 October 2009

Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies

article

Genomic DNA methylation distinguishes subtypes of human focal cortical dysplasia

scientific article published on 10 May 2019

Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes

scientific article

Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy

scientific article published on 31 October 2016

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

scientific article published on 09 May 2011

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

scientific article published on 01 November 2018

Health Technology Assessment report on the presurgical evaluation and surgical treatment of drug-resistant epilepsy

scientific article published on October 2013

Hemicerebellitis can drive handedness shift

scientific article published on 14 September 2017

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias

scientific article published on 11 September 2015

Histopathological Findings in Brain Tissue Obtained during Epilepsy Surgery

scientific article published in October 2017

History and classification of "myoclonic" epilepsies: from seizures to syndromes to diseases

scientific article published in January 2005

How can advances in epilepsy genetics lead to better treatments and cures?

scientific article published on January 2014

Hypothermia for neonatal hypoxic-ischemic encephalopathy: may an early amplitude-integrated EEG improve the selection of candidates for cooling?

scientific article published on 4 May 2012

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

scientific article published on July 2016

Idiopathic epilepsies with seizures precipitated by fever and SCN1A abnormalities.

scientific article

Idiopathic focal epilepsies: the "lost tribe".

scientific article

Impaired object identification in idiopathic childhood occipital epilepsy

scientific article

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

scientific article published on 13 October 2012

In-frame deletion in FLNA causing familial periventricular heterotopia with skeletal dysplasia in males

scientific article published on 11 April 2011

Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear

scientific article

Increasing volume and complexity of pediatric epilepsy surgery with stable seizure outcome between 2008 and 2014: A nationwide multicenter study.

scientific article published on 31 August 2017

Infantile-Onset Syndromic Cerebellar Ataxia and CACNA1G Mutations

scientific article published on 19 October 2019

Influence of dosage, age, and co-medication on plasma topiramate concentrations in children and adults with severe epilepsy and preliminary observations on correlations with clinical response

scientific article published in December 2003

Integration of PCR-Sequencing Analysis with Multiplex Ligation-Dependent Probe Amplification for Diagnosis of Hereditary Fructose Intolerance.

scientific article published on 24 February 2012

International consensus recommendations on the diagnostic work-up for malformations of cortical development

scientific article published on 07 September 2020

Intra-individual plasticity of the TAZ gene leading to different heritable mutations in siblings with Barth syndrome

scientific article published on 18 March 2015

Intracellular levels of the LIS1 protein correlate with clinical and neuroradiological findings in patients with classical lissencephaly

Intrinsic epileptogenicity of gangliogliomas may be independent from co-occurring focal cortical dysplasia

scientific article

Introduction

scientific article published in January 2009

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

scientific article published on 29 October 2019

Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic <i>MTOR</i> Mutations Always a Unilateral Disorder?

publication published on 08 December 2020

Isolated recurrent myelitis in a 7-year-old child with serum aquaporin-4 IgG antibodies

scientific article published on 14 November 2016

KCNQ2 encephalopathy manifesting with Rett-like features: A follow-up into adulthood

scientific article published on 08 September 2020

Ketamine for Refractory Status Epilepticus: A Systematic Review

scientific article published on 01 November 2018

Ketamine in refractory convulsive status epilepticus in children avoids endotracheal intubation

scientific article

Language regression associated with autistic regression and electroencephalographic (EEG) abnormalities: a prospective study

scientific article published on 4 April 2013

Late-onset epileptic spasms: clinical evidence and outcome in 34 patients.

scientific article published on 6 June 2014

Left inferior frontal cortex can compensate the inhibitory functions of right inferior frontal cortex and pre-supplementary motor area

scientific article published on 29 August 2018

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

scientific article published on 15 April 2017

Lennox-Gastaut syndrome with late-onset and prominent reflex seizures in trisomy 21 patients

scientific article

Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology

scientific article published on January 2009

Lesional and non-lesional epilepsies: A blurring genetic boundary

scientific article published on 12 December 2019

Lessons learned from 40 novel PIGA patients and a review of the literature

scientific article published on 26 May 2020

Life-threatening status epilepticus due to focal cortical dysplasia

Linkage and association analysis of CACNG3 in childhood absence epilepsy

scientific article

Linkage and mutational analysis of CLCN2 in childhood absence epilepsy

article

Lissencephaly: Expanded imaging and clinical classification.

scientific article published on 25 April 2017

Long-term efficacy of add-on lacosamide treatment in children and adolescents with refractory epilepsies: A single-center observational study.

scientific article

Long-term efficacy of add-on stiripentol treatment in children, adolescents, and young adults with refractory epilepsies: A single center prospective observational study

scientific article published on 20 October 2019

Making memories: the development of long-term visual knowledge in children with visual agnosia

scientific article

Malformations of cortical development and aberrant cortical networks: epileptogenesis and functional organization

scientific article

Malformations of cortical development and epilepsy

article

Malformations of cortical development and epilepsy

Malformations of cortical development: clinical features and genetic causes

scientific article

Medium-chain acyl-CoA deficiency: outlines from newborn screening, in silico predictions, and molecular studies.

scientific article published on 31 October 2013

Mild generalized epilepsy and developmental disorder associated with large inv dup(15).

scientific article published in September 2002

Mirror syndromes regarding AKT3 mutations: Loss of function variant leading to microcephaly

scientific article published on 21 August 2020

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

article

Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.

scientific article published on 14 July 2015

Molecular mechanisms generating and stabilizing terminal 22q13 deletions in 44 subjects with Phelan/McDermid syndrome

scientific article

Monogenic variants in dystonia: an exome-wide sequencing study

scientific article published on 01 November 2020

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

Mosaic mutations of the FLN1 gene cause a mild phenotype in patients with periventricular heterotopia.

scientific article published on 28 July 2004

Multimodal fiber-probe spectroscopy allows detecting epileptogenic focal cortical dysplasia in children.

scientific article published on 9 January 2017

Multiple genomic copy number variants associated with periventricular nodular heterotopia indicate extreme genetic heterogeneity

scientific article published on 25 January 2019

Mutational analysis of EFHC1 gene in Italian families with juvenile myoclonic epilepsy.

scientific article

Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex

scientific article (publication date: 2004)

Mutations in GABRB3: From febrile seizures to epileptic encephalopathies.

scientific article published on 4 January 2017

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

Mutations in the HECT domain of NEDD4L lead to AKT-mTOR pathway deregulation and cause periventricular nodular heterotopia

scientific article published on 03 October 2016

Mutations in the exocyst component EXOC2 cause severe defects in human brain development

scientific article published on 01 October 2020

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.

scientific article published in October 2017

Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation

scientific article published on February 2004

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.

scientific article

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

scientific article published on 04 November 2020

Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study

scientific article published on 18 November 2020

Neuroimaging and neuropathology of Dravet syndrome.

scientific article

Neuroimaging in mitochondrial disorders

scientific article published on 20 July 2018

Neurologic phenotypes associated with / mutations: Expanding the spectrum of disease

scientific article published on 09 November 2018

Neuronal migration disorders

scientific article

Neuroprotective effects of topiramate and memantine in combination with hypothermia in hypoxic-ischemic brain injury in vitro and in vivo

scientific article published on 12 January 2018

Neuropsychological findings in idiopathic occipital lobe epilepsies

scientific article

Neurosurgical treatment of subependymal giant cell astrocytomas in tuberous sclerosis complex: a series of 44 surgical procedures in 31 patients

scientific article published on 18 December 2019

New clinical and molecular insights on Barth syndrome

scientific article published on 14 February 2013

New strategy for the screening of lysosomal storage disorders: the use of the online trapping-and-cleanup liquid chromatography/mass spectrometry

scientific article published on 01 August 2009

Newborn Screening for Tyrosinemia Type I: Further Evidence that Succinylacetone Determination on Blood Spot Is Essential.

scientific article

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Next-generation sequencing approach to hyperCKemia: A 2-year cohort study

scientific article published on 16 August 2019

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

scientific article published on 04 February 2019

No evidence of ATP1A2 involvement in 12 multiplex Italian families with benign familial infantile seizures

scientific article published on 01 November 2005

No evidence of a role for cystatin B gene in juvenile myoclonic epilepsy

scientific article published on 06 March 2015

No major role for theEMX2gene in schizencephaly

article

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function

scientific article

Nodular heterotopia is built upon layers.

scientific article

Nonconvulsive status epilepticus precipitated by carbamazepine presenting as dissociative and affective disorders in adolescents

scientific article

Nonsyndromic mental retardation and cryptogenic epilepsy in women with doublecortin gene mutations

scientific article published in July 2003

Novel brain expression of ClC-1 chloride channels and enrichment of CLCN1 variants in epilepsy

scientific article published on 13 February 2013

Off-Label Prescribing of Antiepileptic Drugs in Pharmacoresistant Epilepsy: A Cross-Sectional Drug Utilization Study of Tertiary Care Centers in Italy

article

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys

scientific article published on 29 September 2014

Optimizing the molecular diagnosis of GALNS: novel methods to define and characterize Morquio-A syndrome-associated mutations

scientific article

Oral topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia: a safety study

scientific article published on 31 May 2010

Orange-colored diapers as first sign of Lesch-Nyhan disease in an asymptomatic infant

scientific article published on 02 June 2010

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience

scientific article published on 16 February 2019

Overview of presurgical assessment and surgical treatment of epilepsy from the Italian League Against Epilepsy.

scientific article published on October 2013

PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution

scientific article published on June 2016

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

scientific article

PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

scientific article

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

scientific article

Pallister-Killian syndrome: an unusual cause of epileptic spasms

scientific article

Paroxysmal disorders associated with PRRT2 mutations shake up expectations on ion channel genes ⬇️

scientific article published on October 17, 2012

Pathogenetic mechanisms of focal cortical dysplasia

scientific article published on 23 May 2014

Pathophysiology of myoclonic epilepsies.

scientific article published in January 2005

Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsy

scientific article published on 08 September 2020

Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures

scientific article published on 04 March 2019

Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesis

scientific article

Periventricular heterotopia in 6q terminal deletion syndrome: role of the C6orf70 gene

scientific journal article

Periventricular heterotopia with white matter abnormalities associated with 6p25 deletion

scientific article published on 07 June 2012

Periventricular nodular heterotopia in Smith-Magenis syndrome

scientific article published on 24 September 2014

Periventricular nodular heterotopia with overlying polymicrogyria

scientific article published on December 2005

Phenobarbital for neonatal seizures in hypoxic ischemic encephalopathy: a pharmacokinetic study during whole body hypothermia

scientific article published on 03 March 2011

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

scientific article published on 18 March 2021

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

scientific article published on 29 May 2020

Phenotypic spectrum of GABRA1: From generalized epilepsies to severe epileptic encephalopathies.

scientific article

Physiology of human photosensitivity.

scientific article published on January 2004

Pitfalls in genetic testing: the story of missed SCN1A mutations

scientific article published on 14 April 2016

Pitfalls in the detection of gross gene rearrangements using MLPA in Fabry disease.

scientific article published on 31 October 2015

Plasma gabapentin concentrations in children with epilepsy: influence of age, relationship with dosage, and preliminary observations on correlation with clinical response

scientific article

Polymicrogyria and deletion 22q11.2 syndrome: window to the etiology of a common cortical malformation.

scientific article published in November 2006

Polymicrogyria and schizencephaly

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content

scientific article published on 27 November 2019

Preface

Progressive hemispheric shrinking in hemimegalencephaly: a possible role for seizure-related neuronal loss.

scientific article

Progressive myoclonus epilepsy in Gaucher Disease due to a new Gly-Gly mutation causing loss of an Exonic Splicing Enhancer

scientific article published on 31 October 2018

Proposal of an algorithm for diagnosis and treatment of neonatal seizures in developing countries

scientific article published on 18 April 2007

Proposed criteria for referral and evaluation of children for epilepsy surgery: recommendations of the Subcommission for Pediatric Epilepsy Surgery

scientific article published on June 2006

Pyridoxine-5'-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g>A (P.·Arg116gln) mutation.

scientific article

Quantitative MRI-Based Analysis Identifies Developmental Limbic Abnormalities in PCDH19 Encephalopathy

scientific article published on 25 June 2020

Rapid assay of rufinamide in dried blood spots by a new liquid chromatography-tandem mass spectrometric method

scientific article published on 22 July 2010

Rapid assay of topiramate in dried blood spots by a new liquid chromatography-tandem mass spectrometric method

scientific article

Rationale for treating epilepsy in children.

scientific article

Recessive mutations in SLC35A3 cause early onset epileptic encephalopathy with skeletal defects.

scientific article published in April 2017

Reciprocal translocations: a trap for cytogenetists?

scientific article published on 23 July 2005

Recurrent drop attacks in early childhood as presenting symptom of benign hereditary chorea caused by TITF1 gene mutations.

scientific article published on 20 November 2014

Relationships Between Morphologic and Functional Patterns in the Polymicrogyric Cortex

scientific article published on 18 February 2017

Reply

scientific article published on 12 March 2020

Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1".

scientific article

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

scientific article published on 05 March 2014

SAR prediction in adults and children by combining measured B1+ maps and simulations at 7.0 Tesla

scientific article published on 4 April 2016

SARS-CoV-2 infection in a patient with propionic acidemia

scientific article published on 28 October 2020

SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis.

scientific article published on 12 March 2009

SCN1A mutations in focal epilepsy with auditory features: widening the spectrum of GEFS plus

scientific article published on 01 April 2019

SCN3A-related neurodevelopmental disorder: A spectrum of epilepsy and brain malformation

scientific article published on 08 June 2020

SLC25A10 biallelic mutations in intractable epileptic encephalopathy with complex I deficiency

scientific article published in December 2017

Safety and efficacy of topiramate in neonates with hypoxic ischemic encephalopathy treated with hypothermia (NeoNATI): a feasibility study.

scientific article published on 8 March 2017

Safety and tolerability of antiepileptic drug treatment in children with epilepsy

scientific article

Screening of lysosomal storage disorders: application of the online trapping-and-cleanup liquid chromatography/mass spectrometry method for mucopolysaccharidosis I

scientific article published on 01 January 2013

Semiological study of ictal affective behaviour in epilepsy and mental retardation limited to females (EFMR).

scientific article published in September 2012

Severe myoclonic epilepsy in infancy (Dravet syndrome) 30 years later

scientific article published on April 2011

Severe myoclonic epilepsy in infancy: a systematic review and a meta-analysis of individual patient data

scientific article

Shedding light on dark genes: enhanced targeted resequencing by optimizing the combination of enrichment technology and DNA fragment length

scientific article published on 10 June 2020

Somatic Focal Copy Number Gains of Noncoding Regions of Receptor Tyrosine Kinase Genes in Treatment-Resistant Epilepsy

scientific article published on 04 December 2020

Somatic double-hit in MTOR and RPS6 in hemimegalencephaly with intractable epilepsy

scientific article published on 01 November 2019

Somatic mutations in cerebral cortical malformations

scientific article

Somatic overgrowth predisposes to seizures in autism spectrum disorders

scientific article

Spatial centrosome proteome of human neural cells uncovers disease-relevant heterogeneity

scientific article published in 2022

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With <i>KCNC2</i> Pathogenic Variants

scientific article published on 21 March 2022

Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.

scientific article

Strategies for reducing the incidence of skin complications in newborns treated with whole-body hypothermia ⬇️

scientific article published on May 14, 2012

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study.

scientific article published on 22 January 2018

Subcortical band heterotopia (SBH) in males: clinical, imaging and genetic findings in comparison with females

scientific article (publication date: November 2002)

Subcortical band heterotopia with simplified gyral pattern and syndactyly ⬇️

scientific article published on June 1, 2003

Subcortical heterotopic gray matter brain malformations: Classification study of 107 individuals

scientific article published on 04 September 2019

Sudden unexpected fatal encephalopathy in adults with OTC gene mutations-Clues for early diagnosis and timely treatment

scientific article

Symmetric polymicrogyria and pachygyria associated with TUBB2B gene mutations

scientific article

Symptomatic and presumed symptomatic focal epilepsies in childhood: An observational, prospective multicentre study

scientific article published on 20 October 2016

Symptoms of anxiety and depression and family's quality of life in children and adolescents with epilepsy.

scientific article

TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model

scientific article published on 01 August 2019

Tandem mass spectrometry, but not T-cell receptor excision circle analysis, identifies newborns with late-onset adenosine deaminase deficiency

scientific article published on 30 December 2012

Targeted sequencing of 351 candidate genes for epileptic encephalopathy in a large cohort of patients.

scientific article published on 30 July 2016

Temporal lobe epilepsy surgery in children and adults: A multicenter study

scientific article published on 01 December 2020

The ENIGMA-Epilepsy working group: Mapping disease from large data sets

scientific article published on 29 May 2020

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

scientific article published on 01 December 2019

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients.

scientific article published on 14 February 2017

The application of artificial intelligence to understand the pathophysiological basis of psychogenic nonepileptic seizures

scientific article published on 28 September 2018

The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission

scientific article

The epileptic encephalopathies

scientific article published on January 2013

The genetic and molecular basis of epilepsy

scientific article

The genetics of Dravet syndrome.

scientific article published on April 2011

The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy

scientific article published on 6 September 2015

The inclusion of ADA-SCID in expanded newborn screening by tandem mass spectrometry.

scientific article published on 8 September 2013

The ketogenic diet for Dravet syndrome and other epileptic encephalopathies: an Italian consensus.

scientific article published on April 2011

The landscape of epilepsy-related GATOR1 variants

scientific article published on 10 August 2018

The medical and surgical treatment of tumoral seizures: current and future perspectives

scientific article

The phenotype of SCN8A developmental and epileptic encephalopathy

scientific article published on 31 August 2018

The phenotypic spectrum of SCN8A encephalopathy

scientific article

The potential action of galactose as a "chemical chaperone": increase of beta galactosidase activity in fibroblasts from an adult GM1-gangliosidosis patient

scientific article published on 20 June 2008

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome.

scientific article published on 5 November 2015

The spectrum of brain malformations and disruptions in twins

scientific article published on 18 November 2020

The spectrum of intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

The successful inclusion of succinylacetone as a marker of tyrosinemia type I in Tuscany newborn screening program.

scientific article published in December 2009

The syndrome of polymicrogyria, thalamic hypoplasia, and epilepsy with CSWS.

scientific article published on 4 March 2016

The α2B-adrenergic receptor is mutant in cortical myoclonus and epilepsy

scientific article

Therapeutic drug monitoring of carbamazepine and its metabolite in children from dried blood spots using liquid chromatography and tandem mass spectrometry.

scientific article published on 28 February 2015

Thermal inactivation of SARS COVID-2 virus: Are steam inhalations a potential treatment?

scientific article published on 21 November 2020

Tissue Border Enhancement by inversion recovery MRI at 7.0 Tesla.

scientific article published on 25 April 2014

Topiramate concentrations in neonates treated with prolonged whole body hypothermia for hypoxic ischemic encephalopathy

scientific article published on 10 September 2009

Treatment of myoclonic epilepsies in infancy and early childhood.

scientific article published in January 2005

Treatment of myoclonic epilepsies of childhood, adolescence, and adulthood

scientific article published in January 2005

Trends in pediatric epilepsy surgery in Europe between 2008 and 2015: Country-, center-, and age-specific variation

scientific article published on 26 December 2019

Tubulinopathies continued: refining the phenotypic spectrum associated with variants in TUBG1

scientific article published on 30 April 2018

Type I sialidosis, a normosomatic lysosomal disease, in the differential diagnosis of late-onset ataxia and myoclonus: An overview

scientific article published on 31 October 2019

Ultra-High-Field Targeted Imaging of Focal Cortical Dysplasia: The Intracortical Black Line Sign in Type IIb

scientific article published on 14 November 2019

Unbalanced GLA mRNAs ratio quantified by real-time PCR in Fabry patients' fibroblasts results in Fabry disease

scientific article published on 18 June 2008

Unilobar surgery for symptomatic epileptic spasms.

scientific article

Unpleasant auditory illusions and related avoidance behaviour in a child

scientific article published in March 2008

Unstable non-coding pentanucleotide repeats destabilize cortical excitability

scientific article published on 01 August 2018

Vagus nerve stimulation: Surgical technique of implantation and revision and related morbidity

scientific article published on April 2017

Variable epilepsy phenotypes associated with a familial intragenic deletion of the SCN1A gene

scientific article published on 18 November 2010

Vertical extraventricular functional hemispherotomy: a new variant for hemispheric disconnection. Technical notes and results in three patients

scientific article

What is the role of next generation sequencing in status epilepticus?

scientific article published on 09 July 2019

White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

scientific article published on 20 August 2020

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy

scientific article

encephalopathy: A distinctive generalized developmental and epileptic encephalopathy

scientific article published on 12 December 2018

Paulina is supported by:

About Paulina

Help