Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

Autosomal dominant SCN8A mutation with an unusually mild phenotype

(2016) G. Anand et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations

(2016) Montesclaros Hortigüela et al.   JOURNAL OF HUMAN GENETICS

Mutation ofCHRNA2in a family with benign familial infantile seizures: Potential role of nicotinic acetylcholine receptor in various phenotypes of epilepsy

(2015) Marina Trivisano et al.   EPILEPSIA

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

(2015) Bronwyn E. Grinton et al.   EPILEPSIA

Severe phenotypic spectrum of biallelic mutations inPRRT2gene

(2015) Marion Delcourt et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Atypical course in individuals from Spanish families with benign familial infantile seizures and mutations in the PRRT2 gene

(2014) Rosa Guerrero-López et al.   EPILEPSY RESEARCH

Association of GABRA6 1519 T>C (rs3219151) and Synapsin II (rs37733634) gene polymorphisms with the development of idiopathic generalized epilepsy

(2014) D.K.V. Prasad et al.   EPILEPSY RESEARCH

Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis

(2013) Xiaoling Yang et al.   BMC Neurology

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

PRRT2-related disorders: further PKD and ICCA cases and review of the literature

(2013) Felicitas Becker et al.   JOURNAL OF NEUROLOGY

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

(2012) Sarah E. Heron et al.   AMERICAN JOURNAL OF HUMAN GENETICS

In vivo loss of slow potassium channel activity in individuals with benign familial neonatal epilepsy in remission

(2012) S. E. Tomlinson et al.   BRAIN

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

(2012) Atsushi Ishii et al.   BRAIN & DEVELOPMENT

Homozygous c.649dupC mutation inPRRT2worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences

(2012) Angelo Labate et al.   EPILEPSIA

PRRT2 Mutations are the major cause of benign familial infantile seizures

(2012) Julian Schubert et al.   HUMAN MUTATION

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

(2012) I. E. Scheffer et al.   NEUROLOGY

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec et al.   NEUROLOGY

Mutations in the Gene PRRT2 Cause Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions

(2012) Hsien-Yang Lee et al.   Cell Reports

The GABRA6 mutation, R46W, associated with childhood absence epilepsy, alters α6β2γ2 and α6β2δ GABAAreceptor channel gating and expression

(2011) Ciria C. Hernandez et al.   JOURNAL OF PHYSIOLOGY-LONDON

Deletions involving both KCNQ2 and CHRNA4 present with benign familial neonatal seizures

(2009) H. Kurahashi et al.   NEUROLOGY