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Titel:

A homozygous truncating variant in CCDC186 in an individual with epileptic encephalopathy.

Dokumenttyp:
Article; Journal Article; Research Support, Non-U.S. Gov't
Autor(en):
Brugger, Melanie; Becker-Dettling, Fiona; Brunet, Theresa; Strom, Tim; Meitinger, Thomas; Lurz, Eberhard; Borggraefe, Ingo; Wagner, Matias
Abstract:
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 phenotype presenting with developmental delay, epileptic encephalopathy, and failure to thr...     »
Zeitschriftentitel:
Ann Clin Transl Neurol
Jahr:
2021
Band / Volume:
8
Heft / Issue:
1
Seitenangaben Beitrag:
278-283
Volltext / DOI:
doi:10.1002/acn3.51260
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/33259146
TUM Einrichtung:
611; Institut für Humangenetik
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