GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

doi:10.1002/ana.25032

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Article

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

Annals of neurology - 1 Sept 2017

Yoo Yongjin, Jung Jane, Lee Yoo-Na, Lee Youngha, Cho Hyosuk, Na Eunjung, Hong JeaYeok, Kim Eunjin, Lee Jin Sook, Lee Je Sang, Hong Chansik, Park Sang-Yoon, Wie Jinhong, Miller Kathryn, Shur Natasha, Clow Cheryl, Ebel Roseànne S, DeBrosse Suzanne D, Henderson Lindsay B, Willaert Rebecca, Castaldi Christopher, Tikhonova Irina, Bilgüvar Kaya, Mane Shrikant, Kim Ki Joong, Hwang Yong Seung, Lee Seok-Geun, So Insuk, Lim Byung Chan, Choi Hee-Jung, Seong Jae Young, Shin Yong Beom, Jung Hosung, Chae Jong-Hee, Choi Murim

Abstract excerpt

OBJECTIVE: Rett syndrome (RTT) and epileptic encephalopathy (EE) are devastating neurodevelopmental disorders with distinct diagnostic criteria. However, highly heterogeneous and overlapping clinical features often allocate patients into the boundary of the two conditions, complicating accurate diagnosis and appropriate medical interventions. Therefore, we investigated the specific molecular mechanism that allows...

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Identifiers

PMID: 28856709
DOI: 10.1002/ana.25032

Genes

GABBR2
MECP2

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