Search filters

Authors whose works are in public domain in at least one jurisdiction

List of works by Federico Zara

(1)H-MR spectroscopy indicates prominent cerebellar dysfunction in benign adult familial myoclonic epilepsy.

scientific article published on 24 November 2008

17q21.31 microdeletion syndrome: Description of a case further contributing to the delineation of Koolen-de Vries syndrome.

scientific article published on 17 February 2016

6q terminal deletion syndrome associated with a distinctive EEG and clinical pattern: a report of five cases

scientific article published in May 2006

A clinical and genetic study of 33 new cases with early-onset absence epilepsy

scientific article

A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy

scientific article published in May 2011

A new method for analysis of mitochondrial DNA point mutations and assess levels of heteroplasmy

scientific article published on 8 February 2006

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

scientific article published on 19 December 2014

A novel SCN2A mutation in family with benign familial infantile seizures

scientific article published on 01 January 2006

A pilot open-label trial of zonisamide in Unverricht-Lundborg disease

scientific article published on 11 October 2010

A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome).

scientific article

A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus

scientific article published on 24 October 2011

A very fast and accurate method for calling aberrations in array-CGH data

scientific article

AIMP1/p43 Mutation and PMLD ⬇️

scientific article published on March 11, 2011

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.

scientific article published on October 2003

Addition of verapamil in the treatment of severe myoclonic epilepsy in infancy

scientific article published on 20 March 2009

Advances in genetic testing and optimization of clinical management in children and adults with epilepsy

scientific article published on 27 January 2020

Alterations in the α2 δ ligand, thrombospondin-1, in a rat model of spontaneous absence epilepsy and in patients with idiopathic/genetic generalized epilepsies.

scientific article

An open-label trial of levetiracetam in severe myoclonic epilepsy of infancy

scientific article published on 16 July 2007

Assessing the landscape of STXBP1-related disorders in 534 individuals

scientific article published on 01 June 2022

Autosomal dominant cortical tremor, myoclonus and epilepsy.

scientific article published on 12 September 2016

Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.

scientific article published on 25 June 2013

Autosomal recessive idiopathic epilepsy in an inbred family from Turkey: identification of a putative locus on chromosome 9q32-33

scientific article published on 01 May 2004

Autosomal recessive progressive myoclonus epilepsy due to impaired ceramide synthesis

scientific article published on 12 September 2016

Basal ganglia dysmorphism in patients with Aicardi syndrome

scientific article published on 04 December 2020

Benign adult familial myoclonic epilepsy (BAFME): evidence of an extended founder haplotype on chromosome 2p11.1-q12.2 in five Italian families

scientific article published on 30 January 2008

Benign adult familial myoclonic epilepsy: genetic heterogeneity and allelism with ADCME

scientific article published on 01 April 2003

Benign familial infantile convulsions: mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

scientific article

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

scientific article

Benign infantile familial convulsions: natural history of a case and clinical characteristics of a large Italian family

scientific article published on 01 April 1999

Benign myoclonic epilepsy in infancy followed by childhood absence epilepsy

scientific article published on 12 July 2011

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

scientific article published on 22 June 2020

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

scientific article published on 22 March 2007

CHD2 mutations are a rare cause of generalized epilepsy with myoclonic-atonic seizures

scientific article published on 07 August 2015

CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation

scientific article

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

scientific article published on 4 February 2008

Chemokine receptor CCR7 is expressed in muscle fibers in juvenile dermatomyositis.

scientific article published in July 2005

Chitosan may decrease serum valproate and increase the risk of seizure reappearance.

scientific article published on 24 September 2009

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

scientific article published in March 2006

Clinical and electrophysiological features of epilepsy in Italian patients with CLN8 mutations

article

Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV)

scientific article

Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

scientific article published on 4 April 2018

Clinical and molecular consequences of exon 78 deletion in DMD gene

scientific article published on 19 March 2018

Clinical dissection of early onset absence epilepsy in children and prognostic implications

scientific article published on 27 August 2013

Clinical intrafamilial variability in lethal familial neonatal seizure disorder caused by TBC1D24 mutations

scientific article published on 19 August 2016

Clinical phenotype and molecular characterization of 6q terminal deletion syndrome: Five new cases.

scientific article published in September 2006

Clinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization

scientific article published on 14 November 2011

Coexistence of epilepsy and Brugada syndrome in a family with SCN5A mutation.

scientific article published on 25 March 2013

Comment to: overlap cases of eyelid myoclonia with absences and juvenile myoclonic epilepsy

scientific article published on 15 May 2007

Comparative effectiveness of antiepileptic drugs in patients with mesial temporal lobe epilepsy with hippocampal sclerosis

scientific article published on 31 August 2017

Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy.

scientific article

Cryptic chromosome deletions involving SCN1A in severe myoclonic epilepsy of infancy

scientific article published on 01 October 2006

De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy.

scientific article published on 15 June 2017

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 in HCN1 cause early infantile epileptic encephalopathy

scientific article

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

Different electroclinical picture of generalized epilepsy in two families with 15q13.3 microdeletion

scientific article published on 28 February 2013

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

scientific article published on 23 December 2023

Do regulatory regions matter in FOXG1 duplications? ⬇️

scientific article published on July 4, 2012

Dramatic effect of levetiracetam in early-onset epileptic encephalopathy due to STXBP1 mutation.

scientific article published on 23 July 2015

Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.

scientific article published on 23 January 2009

Dramatic response to levetiracetam in post-ischaemic Holmes' tremor.

scientific article published on April 2007

Dravet syndrome: early clinical manifestations and cognitive outcome in 37 Italian patients.

scientific article published on 24 October 2009

Early-onset absence epilepsy: SLC2A1 gene analysis and treatment evolution.

scientific article published on 30 September 2012

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

scientific article published in October 2006

Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy

scientific article published on 19 November 2016

Electroclinical and genetic findings in a family with cortical tremor, myoclonus, and epilepsy.

scientific article published in December 2005

Electroclinical presentation and genotype-phenotype relationships in patients with Unverricht-Lundborg disease carrying compound heterozygous CSTB point and indel mutations.

scientific article published in December 2012

Emerging treatments for progressive myoclonus epilepsies

scientific article published on 17 March 2020

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

scientific article published on 06 September 2013

Epilepsy: Common and rare epilepsies share genetic determinants

scientific article published on 10 March 2017

Epilepsy: HLA alleles linked to carbamazepine hypersensitivity

scientific article published on 07 June 2011

Epilepsy: a 'going ape' model for SUDEP?

scientific article published on 01 December 2009

Epileptic myoclonus as ciprofloxacin-associated adverse effect

scientific article published on 01 August 2007

Erratum to “De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy” [Seizure 57 (2018) 63–65]

scientific article published in April 2018

Evaluation of Presumably Disease Causing SCN1A Variants in a Cohort of Common Epilepsy Syndromes

scientific article

Exome Sequencing Fails to Identify the Genetic Cause of Aicardi Syndrome.

scientific article published on 17 August 2016

Expanding sialidosis spectrum by genome-wide screening: NEU1 mutations in adult-onset myoclonus.

scientific article published on 07 May 2014

Exploration of a Putative Susceptibility Locus for Idiopathic Generalized Epilepsy on Chromosome 8p12

scientific article published on 01 January 2003

Exploration of the genetic architecture of idiopathic generalized epilepsies

scientific article published in October 2006

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

Familial benign nonprogressive myoclonic epilepsies.

scientific article published on May 2009

Familial cortical tremor and epilepsy: a well-defined syndrome with genetic heterogeneity waiting for nosological placement in the ILAE classification.

scientific article published on 25 October 2010

Familial nonkinesigenic paroxysmal dyskinesia and intracranial calcifications: a new syndrome?

scientific article published on 01 October 2010

Fever as a seizure precipitant factor in Panayiotopoulos syndrome: a clinical and genetic study

scientific article published on 19 October 2011

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

scientific article

Functional characterization of the c.462delA mutation in the NDUFS4 subunit gene of mitochondrial complex I.

scientific article published on 11 September 2013

GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

scientific article

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

scientific article published on 25 January 2012

Gain-of-function HCN2 variants in genetic epilepsy.

scientific article published on 24 October 2017

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 and forensic implications in epilepsy and cardiac arrhythmias: a case series

scientific article published on 15 August 2014

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

scientific article published on 4 March 2017

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

scientific article

Genetic diagnosis in Lafora disease: Genotype-phenotype correlations and diagnostic pitfalls

scientific article published on 26 March 2007

Genetic heterogeneity in malignant migrating partial seizures of infancy

scientific article published on 02 January 2014

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 in the epilepsies--report of the ILAE Genetics Commission

scientific article

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

scientific article

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

article

Genotype-phenotype correlations in a group of 15 SCN1A-mutated Italian patients with GEFS+ spectrum (seizures plus, classical and borderline severe myoclonic epilepsy of infancy).

scientific article published on 20 August 2010

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

scientific article published on 01 November 2018

Hemidystonia in uncontrolled type 2 diabetes mellitus

scientific article published on 01 May 2011

Heterogeneous contribution of microdeletions in the development of common generalised and focal epilepsies

scientific article published on 29 July 2017

Hyccin, the molecule mutated in the leukodystrophy hypomyelination and congenital cataract (HCC), is a neuronal protein

scientific journal article

Hypomyelination and congenital cataract: broadening the clinical phenotype

scientific article

Hypomyelination and congenital cataract: identification of novel mutations in two unrelated families.

scientific article

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

scientific article published on July 2016

Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy.

scientific article published on 20 May 2014

Inclusion body myopathy, Paget's disease of the bone and frontotemporal dementia: recurrence of the VCP R155H mutation in an Italian family and implications for genetic counselling.

scientific article

Inherited neuromyotonia: a clinical and genetic study of a family

scientific article published on 30 November 2006

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

scientific article published on 29 October 2019

Lack of SCN1A mutations in familial febrile seizures

scientific article published on 01 May 2002

Lack of SLC2A1 (glucose transporter 1) mutations in 30 Italian patients with alternating hemiplegia of childhood

scientific article published on 16 August 2012

Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation

scientific article published on 01 October 2005

Lesional reflex epilepsy associated with the thought of food

scientific article published on 01 July 2010

Life-threatening status epilepticus following gabapentin administration in a patient with benign adult familial myoclonic epilepsy.

scientific article

Long-term follow-up in two siblings with pyridoxine-dependent seizures associated with a novel ALDH7A1 mutation.

scientific article published on 5 July 2011

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

scientific article published on August 2013

Management of genetic epilepsies: From empirical treatment to precision medicine

scientific article published on 11 April 2016

Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

scientific article

Mapping of genes predisposing to idiopathic generalized epilepsy

scientific article published on 01 July 1995

Microbiota-gut brain axis involvement in neuropsychiatric disorders

scientific article published on 11 July 2019

Mild Lafora disease: clinical, neurophysiologic, and genetic findings.

scientific article published on 30 September 2014

Multiplex real-time PCR for detection of deletions and duplications in dystrophin gene

article

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia

scientific article (publication date: 28 March 2000)

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

scientific article (publication date: 28 March 2000)

Mutations in KCNT1 cause a spectrum of focal epilepsies.

scientific article

Mutations in mTOR pathway linked to megalencephaly syndromes ⬇️

scientific article published on August 21, 2012

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures

scientific article

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy

scientific article

Natural history and long-term evolution in families with autosomal dominant cortical tremor, myoclonus, and epilepsy.

scientific article published on 22 March 2011

Neurological features and long-term follow-up in 15q11.2-13.1 duplication

scientific article

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1.

scientific article published in August 2002

No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 5 in families with typical absence seizures

scientific article published in September 2002

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 GABRG2 mutations in severe myoclonic epilepsy of infancy

scientific article published in March 2003

No evidence of a major locus for benign familial infantile convulsions on chromosome 19q12-q13.1.

scientific article published on 01 December 1999

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

scientific article published on 06 March 2015

Novel FAM126A mutations in hypomyelination and congenital cataract disease ⬇️

scientific article published on August 30, 2013

Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

scientific article published on 12 April 2013

Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

scientific article

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum

scientific article published in October 2006

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

scientific article

PRRT2 Is a Key Component of the Ca(2+)-Dependent Neurotransmitter Release Machinery.

scientific article

PRRT2 controls neuronal excitability by negatively modulating Na+ channel 1.2/1.6 activity

scientific article published on 15 March 2018

PRRT2 is mutated in familial and non-familial benign infantile seizures

scientific article

PRRT2 mutations are the major cause of benign familial infantile seizures.

scientific article published on 11 June 2012

PRRT2: from Paroxysmal Disorders to Regulation of Synaptic Function.

scientific article published on 10 September 2016

Periodic myoclonus due to cytomegalovirus encephalitis in a patient with good syndrome

scientific article published on 01 February 2007

Pharmacological rescue of the dystrophin-glycoprotein complex in Duchenne and Becker skeletal muscle explants by proteasome inhibitor treatment

scientific article

Phenotypic characterization of hypomyelination and congenital cataract

scientific article published in August 2007

Pontocerebellar hypoplasia: clinical, pathologic, and genetic studies

scientific article

Progressive myoclonic epilepsies: definitive and still undetermined causes.

scientific article published on 02 January 2014

Psychiatric comorbidities in patients from seven families with autosomal dominant cortical tremor, myoclonus, and epilepsy

scientific article published on 28 January 2016

Pyridoxine-dependent epilepsy: an under-recognised cause of intractable seizures

scientific article published on 06 October 2010

RETRACTED: De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy

scientific article published on 02 March 2018

Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features

scientific article

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

article

Re: Fame 3: a novel form of progressive myoclonus and epilepsy

scientific article published on 01 January 2008

Recent advances in epilepsy genetics.

scientific article

Refractory, life-threatening status epilepticus in a 3-year-old girl

scientific article published on 01 March 2008

Reply to "Epilepsies in children--the power of making a syndrome diagnosis".

scientific article published in July 2008

Revelation of a novel CLN5 mutation in early juvenile neuronal ceroid lipofuscinosis.

scientific article

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

scientific article published on 12 March 2009

Short and long interval cortical inhibition in patients with Unverricht-Lundborg and Lafora body disease

scientific article published in February 2010

Similar but not identical: clinical implications for molecular studies in monozygotic discordant twins with epilepsy

scientific article published on 13 January 2011

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

scientific article published in 2006

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

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 SCN1A mutations in severe myoclonic epilepsy of infancy

scientific article (publication date: 24 June 2003)

Spinal motor neuron involvement in a patient with homozygous PRUNE mutation

scientific article published on 18 December 2017

Suicide-related events in patients treated with antiepileptic drugs.

scientific article

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

scientific article

TBC1D24 regulates neuronal migration and maturation through modulation of the ARF6-dependent pathway

scientific journal article

TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

scientific article

Teaching NeuroImages: Figure of 8: The clue to the diagnosis of AMPD2 pontocerebellar hypoplasia (PCH9)

scientific article published on 01 October 2017

Temporal lobe abnormalities on brain MRI in healthy volunteers: a prospective case-control study.

scientific article

The PRRT2 knockout mouse recapitulates the neurological diseases associated with PRRT2 mutations.

scientific article

The genetics of Dravet syndrome.

scientific article published on April 2011

The genetics of monogenic idiopathic epilepsies and epileptic encephalopathies.

scientific article published on 13 September 2011

The impact of genetics on the classification of epilepsy syndromes.

scientific article published on May 2009

The leukodystrophy protein FAM126A (hyccin) regulates PtdIns(4)P synthesis at the plasma membrane

scientific journal article

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 intermediate SCN8A-related epilepsy

scientific article published on 10 April 2019

The ubiquitin ligase tripartite-motif-protein 32 is induced in Duchenne muscular dystrophy.

scientific article published on 13 June 2016

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

scientific article

Therapeutic potential of proteasome inhibition in Duchenne and Becker muscular dystrophies

scientific article

Transient epileptic amnesia: a new epileptic syndrome in development?

scientific article published in March 2010

Type 1 diabetes and epilepsy: more than a casual association?

scientific article published on 01 February 2010

Typical progression of myoclonic epilepsy of the Lafora type: a case report.

scientific article

Unfavourable outcome of Hashimoto encephalopathy due to status epilepticus. One autopsy case

scientific article published on 22 November 2005

Unusual EEG pattern linked to chromosome 3p in a family with idiopathic generalized epilepsy

scientific article published on 01 August 1998

West syndrome associated with 14q12 duplications harboring FOXG1

scientific article published on 2 May 2011

Xp11.22 Microduplications Including HUWE1: Case Report and Literature Review.

scientific article

Paulina is supported by:

About Paulina

Help