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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Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: Elsevier 2013
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Accesso online: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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