Name

EPRPDC Gene

Epilepsy, rolandic, with paroxysmal exercise-induced dystonia and writer's cramp

PNKD2 Gene

paroxysmal nonkinesigenic dyskinesia 2

PNKD Gene

paroxysmal nonkinesigenic dyskinesia

This gene is thought to play a role in the regulation of myofibrillogenesis. Mutations in this gene have been associated with the movement disorder paroxysmal non-kinesigenic dyskinesia. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Mar 2010]

CSE Gene

choreoathetosis/spasticity, episodic (paroxysmal choreoathetosis/spasticity)

BFIS1 Gene

benign familial infantile convulsions

ECB2 Gene

erythrocytosis, autosomal recessive benign 2

BRV2 Gene

Vertigo, benign recurrent, 2

TELAB1 Gene

telangiectasia, benign 1

BFIS4 Gene

Convulsions, benign familial infantile, 4

BFIC2 Gene

Benign familial infantile convulsions-2

DKBI Gene

Dyskeratosis, hereditary benign intraepithelial