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http://hdl.handle.net/2440/70383
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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 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. |
RMID: | 0020116102 |
DOI: | 10.1016/j.ajhg.2011.12.003 |
Appears in Collections: | Paediatrics publications |
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