List of works - Carla Marini

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

scientific article published on 04 May 2020

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

scientific article

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

CDKL-5 Encephalopathy in an Indian Girl: Partial Response to the Modified Atkins Diet.

scientific article

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

scientific article (publication date: 2003)

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

scientific article published on 15 February 2017

Clinical spectrum of SCN1A mutations.

scientific article

Clinical spectrum of STX1B-related epileptic disorders.

scientific article published on 8 February 2019

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

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

Diagnostic implications of genetic copy number variation in epilepsy plus

scientific article published on 13 March 2019

Dravet Syndrome: A Case Series

scientific article published on 26 June 2020

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

scientific article published on 01 December 2019

Epileptic drop attacks in partial epilepsy: clinical features, evolution, and prognosis ⬇️

scientific article published on February 1, 1998

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

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

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)

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

scientific article

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

scientific article published on 01 November 2018

Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review ⬇️

scientific article published on December 1, 2001

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

scientific article

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

scientific article published on 25 January 2019

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

scientific article (publication date: May 2001)

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

scientific article

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

scientific article published on 16 October 2020

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

scientific article published on 04 February 2019

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

scientific article

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

scientific article published on 13 February 2013

Novel treatments in Epilepsy guided by Genetic Diagnosis

scientific article published on 12 May 2021

Novel treatments in epilepsy guided by genetic diagnosis

scientific article published on 15 December 2021

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

scientific article

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

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

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

article

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

scientific article published on 01 December 2019

The genetic and molecular basis of epilepsy

scientific article

The phenotype of SCN8A developmental and epileptic encephalopathy

scientific article published on 31 August 2018

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

scientific article published on 09 July 2019

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

scientific article

List of works by Carla Marini

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

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

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

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

CDKL-5 Encephalopathy in an Indian Girl: Partial Response to the Modified Atkins Diet.

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

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

Clinical spectrum of SCN1A mutations.

Clinical spectrum of STX1B-related epileptic disorders.

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

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

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

Definition and diagnostic criteria of sleep-related hypermotor epilepsy

Diagnostic implications of genetic copy number variation in epilepsy plus

Dravet Syndrome: A Case Series

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

Epileptic drop attacks in partial epilepsy: clinical features, evolution, and prognosis ⬇️

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

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

Generalized epilepsies

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

Genetic heterogeneity in infantile spasms

Genetic malformations of cortical development

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

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

Ictal bradycardia in partial epileptic seizures: Autonomic investigation in three cases and literature review ⬇️

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

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

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

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

Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene

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

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

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

Novel treatments in Epilepsy guided by Genetic Diagnosis

Novel treatments in epilepsy guided by genetic diagnosis

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Phenotypic Spectrum of Seizure Disorders in MBD5-Associated Neurodevelopmental Disorder

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

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

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

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

The genetic and molecular basis of epilepsy

The phenotype of SCN8A developmental and epileptic encephalopathy

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

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