Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

NovelKCNQ2andKCNQ3Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1A

(2013) Maria Virginia Soldovieri et al.   HUMAN MUTATION

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

(2013) K. Nakamura et al.   NEUROLOGY

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

(2013) S. Weckhuysen et al.   NEUROLOGY

KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response

(2013) A. L. Numis et al.   NEUROLOGY

Whole exome sequencing identifies KCNQ2 mutations in Ohtahara syndrome

(2012) Hirotomo Saitsu et al.   ANNALS OF NEUROLOGY

Early-onset epileptic encephalopathy in a girl carrying a truncating mutation of theARXgene: rethinking theARXphenotype in females

(2012) E Bettella et al.   CLINICAL GENETICS

Epileptic encephalopathies (including severe epilepsy syndromes)

(2012) Athanasios Covanis   EPILEPSIA

Epileptic Encephalopathies in Infants and Children

(2012) Douglas R. Nordli   JOURNAL OF CLINICAL NEUROPHYSIOLOGY

A genetic diagnostic approach to infantile epileptic encephalopathies

(2012) Benjamin A. Kamien et al.   JOURNAL OF CLINICAL NEUROSCIENCE

Identification of SCN1A and PCDH19 Mutations in Chinese Children with Dravet Syndrome

(2012) Anna Ka-Yee Kwong et al.   PLoS One

What We Know and Would Like to Know about CDKL5 and Its Involvement in Epileptic Encephalopathy

(2012) Charlotte Kilstrup-Nielsen et al.   NEURAL PLASTICITY

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

Clinical spectrum of SCN2A mutations

(2011) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients

(2011) Cyril Mignot et al.   EPILEPSIA

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

(2011) Mathieu Milh et al.   EPILEPSIA

Pure haploinsufficiency for Dravet syndrome NaV1.1 (SCN1A) sodium channel truncating mutations

(2011) Giulia Bechi et al.   EPILEPSIA

Pathogenic Role of the X-Linked Cyclin-Dependent Kinase-Like 5 and Aristaless-Related Homeobox Genes in Epileptic Encephalopathy of Unknown Etiology With Onset in the First Year of Life

(2011) Stefano Sartori et al.   JOURNAL OF CHILD NEUROLOGY

Pyridoxine dependent epilepsy and antiquitin deficiency

(2011) Sylvia Stockler et al.   MOLECULAR GENETICS AND METABOLISM

Genes of Early-Onset Epileptic Encephalopathies: From Genotype to Phenotype

(2011) Mario Mastrangelo et al.   PEDIATRIC NEUROLOGY

Infantile epileptic encephalopathy with late-onset spasms: Report of 19 patients

(2010) Stéphane Auvin et al.   EPILEPSIA

Genetic testing in the epilepsies-Report of the ILAE Genetics Commission

(2010) Ruth Ottman et al.   EPILEPSIA

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations

(2010) L. Deprez et al.   NEUROLOGY

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

(2009) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

Mutational spectrum ofCDKL5in early-onset encephalopathies: a study of a large collection of French patients and review of the literature

(2009) C Nemos et al.   CLINICAL GENETICS

Xp22.3 genomic deletions involving theCDKL5gene in girls with early onset epileptic encephalopathy

(2009) Davide Mei et al.   EPILEPSIA

TheSCN1Avariant database: a novel research and diagnostic tool

(2009) Lieve RF Claes et al.   HUMAN MUTATION

De novo mutations of voltage-gated sodium channel  II gene SCN2A in intractable epilepsies

(2009) I. Ogiwara et al.   NEUROLOGY

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

Expansion of the ARX spectrum

(2008) Robert Wallerstein et al.   CLINICAL NEUROLOGY AND NEUROSURGERY

De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Is Epilepsy a Disease of Synaptic Transmission?

(2008)   Epilepsy Currents