Article
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
American journal of human genetics - 13 Jan 2012
Heron Sarah E, Grinton Bronwyn E, Kivity Sara, Afawi Zaid, Zuberi Sameer M, Hughes James N, Pridmore Clair, Hodgson Bree L, Iona Xenia, Sadleir Lynette G, Pelekanos James, Herlenius Eric, Goldberg-Stern Hadassa, Bassan Haim, Haan Eric, Korczyn Amos D, Gardner Alison E, Corbett Mark A, Gécz Jozef, Thomas Paul Q, Mulley John C, Berkovic Samuel F, Scheffer Ingrid E, Dibbens Leanne M
Abstract excerpt
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...
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