Diagnostic Approach to Genetic Causes of Early-Onset Epileptic Encephalopathy

The incidence ofSCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009

(2015) Allan Bayat et al.   EPILEPSIA

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

(2015) Saadet Mercimek-Mahmutoglu et al.   EPILEPSIA

Cognitive development in females with PCDH19 gene-related epilepsy

(2015) Simona Cappelletti et al.   EPILEPSY & BEHAVIOR

Neurodevelopmental outcome of infantile spasms: A systematic review and meta-analysis

(2015) Elysa Widjaja et al.   EPILEPSY RESEARCH

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

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

Early Onset Epilepsy and Inherited Metabolic Disorders: Diagnosis and Management

(2014) Asuri N. Prasad et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Genetic Testing of Epileptic Encephalopathies of Infancy: An Approach

(2014) Suvasini Sharma et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Optimizing the molecular diagnosis ofCDKL5gene-related epileptic encephalopathy in boys

(2014) Davide Mei et al.   EPILEPSIA

Clinical utility of genetic testing in pediatric drug-resistant epilepsy: A pilot study

(2014) Margie A. Ream et al.   EPILEPSY & BEHAVIOR

Association of nonsense mutation in GABRG2 with abnormal trafficking of GABAA receptors in severe epilepsy

(2014) Atsushi Ishii et al.   EPILEPSY RESEARCH

Two siblings with early infantile myoclonic encephalopathy due to mutation in the gene encoding mitochondrial glutamate/H+ symporter SLC25A22

(2014) Rony Cohen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditions

(2014) Kelly D. Farwell et al.   GENETICS IN MEDICINE

Epilepsy and mental retardation restricted to females: X-linked epileptic infantile encephalopathy of unusual inheritance

(2014) Kinga Duszyc et al.   JOURNAL OF APPLIED GENETICS

GABRA1 and STXBP1: Novel genetic causes of Dravet syndrome

(2014) G. L. Carvill et al.   NEUROLOGY

Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013

(2013) Piero Pavone et al.   BRAIN & DEVELOPMENT

Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

(2013) Mitsuhiro Kato et al.   EPILEPSIA

Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?

(2013) Giulia Barcia et al.   European Journal of Medical Genetics

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders

(2013) J. J. T. van Harssel et al.   NEUROGENETICS

Recurrent mutations in theCDKL5gene: Genotype-phenotype relationships

(2012) Nadia Bahi-Buisson et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents

(2012) James W Wheless et al.   BMC Pediatrics

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset

(2012) Matteo Vatta et al.   JOURNAL OF CHILD NEUROLOGY

Early-Onset Epileptic Encephalopathies: Ohtahara Syndrome and Early Myoclonic Encephalopathy

(2012) Jules C. Beal et al.   PEDIATRIC NEUROLOGY

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

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

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

(2011) C. B. Catarino et al.   BRAIN

Electroencephalographic characteristics of Dravet syndrome

(2011) Michelle Bureau et al.   EPILEPSIA

Neuroimaging and neuropathology of Dravet syndrome

(2011) Renzo Guerrini et al.   EPILEPSIA

Dravet syndrome: The long-term outcome

(2011) Pierre Genton et al.   EPILEPSIA

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

(2011) Mathieu Milh et al.   EPILEPSIA

The core Dravet syndrome phenotype

(2011) Charlotte Dravet   EPILEPSIA

A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies

(2011) Mario Mastrangelo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Spatio-temporal transcriptome of the human brain

(2011) Hyo Jung Kang et al.   NATURE

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

(2011) K. M. Klein et al.   NEUROLOGY

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

(2011) Mario Mastrangelo et al.   PEDIATRIC NEUROLOGY

MRI of Childhood Epilepsy Due to Inborn Errors of Metabolism

(2010) Bejoy Thomas et al.   AMERICAN JOURNAL OF ROENTGENOLOGY

Frameshift mutations of the ARX gene in familial Ohtahara syndrome

(2010) Mitushiro Kato et al.   EPILEPSIA

STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern

(2010) Hirotomo Saitsu et al.   EPILEPSIA

STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study

(2010) Motoko Otsuka 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

ARX spectrum disorders: making inroads into the molecular pathology

(2010) Cheryl Shoubridge et al.   HUMAN MUTATION

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

Protocadherin 19 mutations in girls with infantile-onset epilepsy

(2010) C. Marini et al.   NEUROLOGY

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

(2010) L. Deprez et al.   NEUROLOGY

Milder phenotype with SCN1A truncation mutation other than SMEI

(2010) Mei-Juan Yu et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Cyclin-Dependent Kinase-Like 5 (CDKL5) Mutation Screening in Rett Syndrome and Related Disorders

(2010) Rose White et al.   Twin Research and Human Genetics

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

(2009) Ingrid E. Scheffer 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

Mutations in the mitochondrial glutamate carrierSLC25A22in neonatal epileptic encephalopathy with suppression bursts

(2009) F Molinari et al.   CLINICAL GENETICS

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

(2009) I. Ogiwara et al.   NEUROLOGY

Early Myoclonic Encephalopathy and Nonketotic Hyperglycinemia

(2009) Samantha Rossi et al.   PEDIATRIC NEUROLOGY

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

(2009) Christel Depienne et al.   PLoS Genetics

Infantile Spasms Is Associated with Deletion of the MAGI2 Gene on Chromosome 7q11.23-q21.11

(2008) Christian R. Marshall et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Epilepsy and mental retardation limited to females: an under-recognized disorder

(2008) Ingrid E. Scheffer et al.   BRAIN

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

Microchromosomal deletions involvingSCN1Aand adjacent genes in severe myoclonic epilepsy in infancy

(2008) Ji-wen Wang et al.   EPILEPSIA

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

(2008) C Depienne et al.   JOURNAL OF MEDICAL GENETICS

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

(2008) Hirotomo Saitsu et al.   NATURE GENETICS

Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy

(2008) J. N. Johnson et al.   NEUROLOGY

Molecular Pathology of Genetic Epilepsies Associated with GABAAReceptor Subunit Mutations

(2008) Robert L. Macdonald et al.   Epilepsy Currents