Article
Modeling genetic epileptic encephalopathies using brain organoids.
EMBO molecular medicine - 9 Aug 2021
Steinberg Daniel J, Repudi Srinivasarao, Saleem Afifa, Kustanovich Irina, Viukov Sergey, Abudiab Baraa, Banne Ehud, Mahajnah Muhammad, Hanna Jacob H, Stern Shani, Carlen Peter L, Aqeilan Rami I
Abstract excerpt
Developmental and epileptic encephalopathies (DEE) are a group of disorders associated with intractable seizures, brain development, and functional abnormalities, and in some cases, premature death. Pathogenic human germline biallelic mutations in tumor suppressor WW domain-containing oxidoreductase (WWOX) are associated with a relatively mild autosomal recessive spinocerebellar ataxia-12 (SCAR12) and a more...
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