Biallelic SZT2 Mutations Cause Infantile Encephalopathy with Epilepsy and Dysmorphic Corpus Callosum

Epileptic encephalopathies are genetically heterogeneous severe disorders in which epileptic activity contributes to neurological deterioration. We studied two unrelated children presenting with a distinctive early-onset epileptic encephalopathy characterized by refractory epilepsy and absent develo...

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Main Authors: Basel-Vanagaite, Lina, Hershkovitz, Tova, Heyman, Eli, Raspall-Chaure, Miquel, Kakar, Naseebullah, Smirin-Yosef, Pola, Vila-Pueyo, Marta, Kornreich, Liora, Thiele, Holger, Bode, Harald, Lagovsky, Irina, Dahary, Dvir, Haviv, Ami, Hubshman, Monika Weisz, Pasmanik-Chor, Metsada, Nürnberg, Peter, Gothelf, Doron, Kubisch, Christian, Shohat, Mordechai, Macaya, Alfons, Borck, Guntram
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2013
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3769928/
https://ncbi.nlm.nih.gov/pubmed/23932106
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2013.07.005
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