Severe infantile epileptic encephalopathy due to mutations inPLCB1: expansion of the genotypic and phenotypic disease spectrum

Early Onset Epilepsy and Inherited Metabolic Disorders: Diagnosis and Management

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

Advancing the management of childhood epilepsies

(2013) J. Helen Cross et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

(2013) Gemma L Carvill et al.   NATURE GENETICS

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

(2012) A. Brunklaus et al.   BRAIN

The clinical utility of anSCN1Agenetic diagnosis in infantile-onset epilepsy

(2012) ANDREAS BRUNKLAUS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The clinical utility of chromosomal microarray in childhood neurological disorders

(2012) MANJU A KURIAN   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Inborn errors of metabolism causing epilepsy

(2012) SHAMIMA RAHMAN et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A population-based study of newly diagnosed epilepsy in infants

(2012) Christin M. Eltze et al.   EPILEPSIA

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

(2012) Annapurna Poduri et al.   EPILEPSIA

Rare copy number variants are an important cause of epileptic encephalopathies

(2011) Heather C. Mefford et al.   ANNALS OF NEUROLOGY

Multiple roles of phosphoinositide-specific phospholipase C isozymes

(2011) Pann-Ghill Suh et al.   BMB Reports

Epilepsy and the new cytogenetics

(2011) John C. Mulley et al.   EPILEPSIA

Developments in Molecular Genetic Diagnostics: An Update for the Pediatric Epilepsy Specialist

(2011) Amanda W. Pong et al.   PEDIATRIC NEUROLOGY

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

(2011) Mario Mastrangelo et al.   PEDIATRIC NEUROLOGY

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

(2010) Manju A. Kurian et al.   BRAIN

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

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

(2010) L. Deprez et al.   NEUROLOGY

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

(2009) Fadi F. Hamdan et al.   ANNALS OF NEUROLOGY

TheSCN1Avariant database: a novel research and diagnostic tool

(2009) Lieve RF Claes et al.   HUMAN MUTATION

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

(2008) Hirotomo Saitsu et al.   NATURE GENETICS