Please use this identifier to cite or link to this item: https://hdl.handle.net/2440/70383
Citations
Scopus Web of Science® Altmetric
?
?
Type: Journal article
Title: PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome
Author: Heron, S.
Grinton, B.
Kivity, S.
Afawi, Z.
Zuberi, S.
Hughes, J.
Pridmore, C.
Hodgson, B.
Iona, X.
Sadleir, L.
Pelekanos, J.
Herlenius, E.
Goldberg-Stern, H.
Bassan, H.
Haan, E.
Korczyn, A.
Gardner, A.
Corbett, M.
Gecz, J.
Thomas, P.
et al.
Citation: American Journal of Human Genetics, 2012; 90(1):152-160
Publisher: Univ Chicago Press
Issue Date: 2012
ISSN: 0002-9297
1537-6605
Statement of
Responsibility: 
Sarah E. Heron... James N. Hughes, Clair Pridmore... Eric Haan... Jozef Gécz, Paul Q. Thomas, John C. Mulley... Leanne M. Dibbens... et al.
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).
Keywords: Animals
Humans
Mice
Brain
Chromosomes, Human, Pair 16
Epilepsy, Benign Neonatal
Seizures
Chorea
Membrane Proteins
Nerve Tissue Proteins
Pedigree
Base Sequence
Mutation
Molecular Sequence Data
Child, Preschool
Infant
Athetosis
Age of Onset
Male
Rights: Copyright © 2012 The American Society of Human Genetics.
DOI: 10.1016/j.ajhg.2011.12.003
Appears in Collections:Aurora harvest
Paediatrics publications

Files in This Item:
There are no files associated with this item.


Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.