TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features.

ABSTRACT:

Objective

To evaluate the phenotypic spectrum associated with mutations in TBC1D24.

Methods

We acquired new clinical, EEG, and neuroimaging data of 11 previously unreported and 37 published patients. TBC1D24 mutations, identified through various sequencing methods, can be found online (http://lovd.nl/TBC1D24).

Results

Forty-eight patients were included (28 men, 20 women, average age 21 years) from 30 independent families. Eighteen patients (38%) had myoclonic epilepsies. The other patients carried diagnoses of focal (25%), multifocal (2%), generalized (4%), and unclassified epilepsy (6%), and early-onset epileptic encephalopathy (25%). Most patients had drug-resistant epilepsy. We detail EEG, neuroimaging, developmental, and cognitive features, treatment responsivenes

SUBMITTER: Balestrini S 

PROVIDER: S-EPMC4932231 | biostudies-literature | 2016 Jul

REPOSITORIES: biostudies-literature