PRRT2 Mutations are the major cause of benign familial infantile seizures

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

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

GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy

(2012) P. Striano et al.   NEUROLOGY

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

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

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

(2011) J.-L. Wang et al.   BRAIN

Targeted genomic sequencing identifiesPRRT2mutations as a cause of paroxysmal kinesigenic choreoathetosis

(2011) Jingyun Li et al.   JOURNAL OF MEDICAL GENETICS

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

(2011) Wan-Jin Chen et al.   NATURE GENETICS

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

(2010) Yunxiang Liao et al.   BRAIN

Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1

(2009) Arvid Suls et al.   ANNALS OF NEUROLOGY

Genetic mechanisms in idiopathic epilepsies

(2009) Yvonne G Weber et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1

(2008) A. Suls et al.   BRAIN

A BFIS-like syndrome with late onset and febrile seizures: Suggestive linkage to chromosome 16p11.2-16q12.1

(2008) Yvonne G. Weber et al.   EPILEPSIA

Tandem duplication/triplication correlated with poly-cytosine stretch variation in human mitochondrial DNA D-loop region

(2008) W.-Y. Hung et al.   MUTAGENESIS