Results for "Benign Infantile Myoclonic Epilepsy": 26 genes

Name

BFIS1 Gene

benign familial infantile convulsions

BFIS4 Gene

Convulsions, benign familial infantile, 4

BFIC2 Gene

Benign familial infantile convulsions-2

EIM Gene

Infantile myoclonic epilepsy

ECB2 Gene

erythrocytosis, autosomal recessive benign 2

BRV2 Gene

Vertigo, benign recurrent, 2

TELAB1 Gene

telangiectasia, benign 1

DKBI Gene

Dyskeratosis, hereditary benign intraepithelial

FAME4 Gene

Epilepsy, familial adult myoclonic, 4

FAME3 Gene

Epilepsy, familial adult myoclonic, 3

FCMTE2 Gene

familial cortical myoclonic tremor with epilepsy 2

FCMTE1 Gene

familial cortical myoclonic tremor with epilepsy 1

EJM3 Gene

Epilepsy, juvenile myoclonic 3

EJM2 Gene

epilepsy, juvenile myoclonic 2

EJM4 Gene

Myoclonic epilepsy, juvenile, 4

EJM9 Gene

Epilepsy, juvenile myoclonic, susceptiblity to, 9

DYT15 Gene

dystonia 15, myoclonic

NYS5 Gene

Nystagmus 5, infantile periodic alternating

CLN6 Gene

ceroid-lipofuscinosis, neuronal 6, late infantile, variant

This gene is one of eight which have been associated with neuronal ceroid lipofuscinoses (NCL). Also referred to as Batten disease, NCL comprises a class of autosomal recessive, neurodegenerative disorders affecting children. The genes responsible likely encode proteins involved in the degradation of post-translationally modified proteins in lysosomes. The primary defect in NCL disorders is thought to be associated with lysosomal storage function. [provided by RefSeq, Oct 2008]

PKDTS Gene

polycystic kidney disease, infantile severe, with tuberous sclerosis

GLC3B Gene

glaucoma 3, primary infantile, B

IHPS2 Gene

Pyloric stenosis, infantile hypertrophic, 2

CMS1A1 Gene

myasthenia gravis, familial infantile, 1

IHPS5 Gene

Pyloric stenosis, infantile hypertrophic, 5

IHPS4 Gene

Pyloric stenosis, infantile hypertrophic, 4

IHPS3 Gene

Pyloric stenosis, infantile hypertrophic, 3