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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...
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| Yayımlandı: | Am J Med Genet A |
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| Asıl Yazarlar: | , , , , , , , , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
2018
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| Konular: | |
| Online Erişim: | 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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