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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
Statement of
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
Chromosomes, Human, Pair 16
Epilepsy, Benign Neonatal
Membrane Proteins
Nerve Tissue Proteins
Base Sequence
Molecular Sequence Data
Child, Preschool
Age of Onset
Rights: Copyright © 2012 The American Society of Human Genetics.
DOI: 10.1016/j.ajhg.2011.12.003
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Appears in Collections:Aurora harvest
Paediatrics publications

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