Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous pathogenic variant-related developmental and epileptic encephalopathy

Author:

Lee Hsiu-Fen,Chi Ching-Shiang,Tsai Chi-Ren

Publisher

Elsevier BV

Subject

Neurology (clinical),General Medicine,Surgery

Reference11 articles.

1. The epilepsy-associated protein TBC1D24 is required for normal development, survival and vesicle trafficking in mammalian neurons;Finelli;Hum. Mol. Genet.,2019

2. TBC1D24-TLDc-related epilepsy exercise-induced dystonia: rescue by antioxidants in a disease model;Lüthy;Brain,2019

3. Mucha BE, Hennekam RCM, Sisodiya S., Campeau PM. TBC1D24-related disorders. 2015 Feb 26 [updated 2017 Dec 7]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020.

4. TBC1D24 genotype-phenotype correlation: epilepsies and other neurologic features;Balestrini;Neurology,2016

5. Identification of a novel homozygous TBC1D24 mutation in a Turkish family with DOORS syndrome;Atli;Clin. Dysmorphol.,2018

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