Article
A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.
Annals of clinical and translational neurology - 1 Jan 2021
Brugger Melanie, Becker-Dettling Fiona, Brunet Theresa, Strom Tim, Meitinger Thomas, Lurz Eberhard, Borggraefe Ingo, Wagner Matias
Abstract excerpt
Coiled-Coil Domain Containing Protein 186 (CCDC186) is hypothesized to play an important role in the biogenesis of dense-core vesicles in neurons and endocrine cells. Biallelic loss-of-function variants in the encoding gene CCDC186 have been suggested as a candidate gene for a neurodevelopmental phenotype, but only one patient has been described so far. We report a second patient with a CCDC186-associated...
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