Case Report: Novel mutations in TBC1D24 are associated with autosomal dominant tonic-clonic and myoclonic epilepsy and recessive Parkinsonism, psychosis, and intellectual disability

Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic encephalopathy, and non-syndromic hearing loss. In this report, we describe a family segregating autosomal dominant epilepsy...

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Bibliographic Details
Published in:F1000Res
Main Authors: Banuelos, Erika, Ramsey, Keri, Belnap, Newell, Krishnan, Malavika, Balak, Chris, Szelinger, Szabolcs, Siniard, Ashley L., Russell, Megan, Richholt, Ryan, De Both, Matt, Piras, Ignazio, Naymik, Marcus, Claasen, Ana M., Rangasamy, Sampathkumar, Huentelman, Matthew J., Craig, David W., Campeau, Philippe M., Narayanan, Vinodh, Schrauwen, Isabelle
Format: Artigo
Language:Inglês
Published: F1000Research 2017
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Case Report
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC5473401/
https://ncbi.nlm.nih.gov/pubmed/28663785
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.12688/f1000research.10588.1
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