title: PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
abstract: Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inheritance. We have identified heterozygous mutations in PRRT2, which encodes proline-rich transmembrane protein 2, in 14 of 17 families (82%) affected by BFIE, indicating that PRRT2 mutations are the most frequent cause of this disorder. We also report PRRT2 mutations in five of six (83%) families affected by infantile convulsions and choreoathetosis (ICCA) syndrome, a familial syndrome in which infantile seizures and an adolescent-onset movement disorder, paroxysmal kinesigenic choreoathetosis (PKC), co-occur. These findings show that mutations in PRRT2 cause both epilepsy and a movement disorder. Furthermore, PRRT2 mutations elicit pleiotropy in terms of both age of expression (infancy versus later childhood) and anatomical substrate (cortex versus basal ganglia).
authors.affiliation: Epilepsy Research Program, School of Pharmacy and Medical Sciences, University of South Australia, Adelaide, Australia.
authors.forename: Sarah E
authors.initials: SE
authors.lastname: Heron
authors.forename: Bronwyn E
authors.initials: BE
authors.lastname: Grinton
authors.forename: Sara
authors.initials: S
authors.lastname: Kivity
authors.forename: Zaid
authors.initials: Z
authors.lastname: Afawi
authors.forename: Sameer M
authors.initials: SM
authors.lastname: Zuberi
authors.forename: James N
authors.initials: JN
authors.lastname: Hughes
authors.forename: Clair
authors.initials: C
authors.lastname: Pridmore
authors.forename: Bree L
authors.initials: BL
authors.lastname: Hodgson
authors.forename: Xenia
authors.initials: X
authors.lastname: Iona
authors.forename: Lynette G
authors.initials: LG
authors.lastname: Sadleir
authors.forename: James
authors.initials: J
authors.lastname: Pelekanos
authors.forename: Eric
authors.initials: E
authors.lastname: Herlenius
authors.forename: Hadassa
authors.initials: H
authors.lastname: Goldberg-Stern
authors.forename: Haim
authors.initials: H
authors.lastname: Bassan
authors.forename: Eric
authors.initials: E
authors.lastname: Haan
authors.forename: Amos D
authors.initials: AD
authors.lastname: Korczyn
authors.forename: Alison E
authors.initials: AE
authors.lastname: Gardner
authors.forename: Mark A
authors.initials: MA
authors.lastname: Corbett
authors.forename: Jozef
authors.initials: J
authors.lastname: Gécz
authors.forename: Paul Q
authors.initials: PQ
authors.lastname: Thomas
authors.forename: John C
authors.initials: JC
authors.lastname: Mulley
authors.forename: Samuel F
authors.initials: SF
authors.lastname: Berkovic
authors.forename: Ingrid E
authors.initials: IE
authors.lastname: Scheffer
authors.forename: Leanne M
authors.initials: LM
authors.lastname: Dibbens
mesh_terms: D017668:Age of Onset; D000818:Animals; D001264:Athetosis / Q000235:genetics*; D001483:Base Sequence; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D002819:Chorea / Q000235:genetics*; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D051379:Mice; D008969:Molecular Sequence Data; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D012640:Seizures / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009419:Nerve Tissue Proteins; C569370:PRRT2 protein, human