Article
Clinical and genetic aspects of PCDH19-related epilepsy syndromes and the possible role of PCDH19 mutations in males with autism spectrum disorders.
Neurogenetics - 1 Feb 2013
van Harssel J J T, Weckhuysen S, van Kempen M J A, Hardies K, Verbeek N E, de Kovel C G F, Gunning W B, van Daalen E, de Jonge M V, Jansen A C, Vermeulen R J, Arts W F M, Verhelst H, Fogarasi A, de Rijk-van Andel J F, Kelemen A, Lindhout D, De Jonghe P, Koeleman B P C, Suls A, Brilstra E H
Abstract excerpt
Epilepsy and mental retardation limited to females (EFMR), caused by PCDH19 mutations, has a variable clinical expression that needs further exploration. Onset of epilepsy may be provoked by fever and can resemble Dravet syndrome. Furthermore, transmitting males have no seizures, but are reported to have rigid personalities suggesting possible autism spectrum disorders (ASD). Therefore, this study aimed to...
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