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|Title:||PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome|
|Citation:||American Journal of Human Genetics, 2012; 90(1):152-160|
|Publisher:||Univ Chicago Press|
|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.|
|Appears in Collections:||Paediatrics publications|
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