Mutations in SZT2 result in early-onset epileptic encephalopathy and leukoencephalopathy

Early-onset epileptic encephalopathies (EOEEs) are a genetically heterogeneous collection of severe epilepsies often associated with psychomotor regression. Mutations in SZT2, a known seizure threshold regulator gene, are a newly identified cause of EOEE. We present an individual with EOEE, macrocep...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Am J Med Genet A
Prif Awduron: Pizzino, Amy, Whitehead, Matthew, Rasekh, Parisa Sabet, Murphy, Jennifer, Helman, Guy, Bloom, Miriam, Evans, Sarah H., Murnick, John G., Conry, Joan, Taft, Ryan J., Simons, Cas, Vanderver, Adeline, Adang, Laura A.
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: 2018
Pynciau:
Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC8025690/
https://ncbi.nlm.nih.gov/pubmed/29696782
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38717
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