Clinical and research tests for epilepsy - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 250

Select all conditions on this page	Gene symbol	Associated conditionsHelp Conditions and phenotypes associated with each gene as reported by OMIM, GeneReviews and Gene
Select item 1822	ATN1 Tests	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies Dentatorubral-pallidoluysian atrophy
Select item 478	ATP1A3 Tests	Alternating hemiplegia of childhood 2 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Developmental and epileptic encephalopathy 99 Dystonia 12
Select item 488	ATP2A2 Tests	Acrokeratosis verruciformis of Hopf Keratosis follicularis
Select item 10159	ATP6AP2 Tests	Congenital disorder of glycosylation, type IIr Syndromic X-linked intellectual disability Hedera type X-linked parkinsonism-spasticity syndrome
Select item 535	ATP6V0A1 Test	Developmental and epileptic encephalopathy 104 Neurodevelopmental disorder with epilepsy and brain atrophy
Select item 527	ATP6V0C Tests	Epilepsy, early-onset, 3, with or without developmental delay
Select item 10295	BCKDK Tests	Branched-chain keto acid dehydrogenase kinase deficiency
Select item 8912	CACNA1H Tests	Epilepsy, childhood absence, susceptibility to, 6 Hyperaldosteronism, familial, type IV
Select item 785	CACNB4 Tests	Epilepsy, idiopathic generalized, susceptibility to, 9 Episodic ataxia type 5
Select item 846	CASR Tests	Autosomal dominant hypocalcemia 1 Epilepsy, idiopathic generalized, susceptibility to, 8 Familial hypocalciuric hypercalcemia 1 Neonatal severe primary hyperparathyroidism
Select item 894	CCND2 Tests	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3
Select item 10715	CERS1 Tests	Progressive myoclonic epilepsy type 8
Select item 26038	CHD5 Test	Parenti-mignot neurodevelopmental syndrome
Select item 1135	CHRNA2 Tests	Autosomal dominant nocturnal frontal lobe epilepsy 4
Select item 1137	CHRNA4 Tests	Autosomal dominant nocturnal frontal lobe epilepsy 1 Tobacco addiction, susceptibility to
Select item 1139	CHRNA7 Tests	Chromosome 15q13.3 microdeletion syndrome
Select item 1141	CHRNB2 Tests	Autosomal dominant nocturnal frontal lobe epilepsy 3
Select item 22858	CILK1 Tests	Endocrine-cerebro-osteodysplasia syndrome Epilepsy, juvenile myoclonic, susceptibility to, 10
Select item 1181	CLCN2 Tests	Epilepsy, idiopathic generalized, susceptibility to, 11 Familial hyperaldosteronism type II Leukoencephalopathy with mild cerebellar ataxia and white matter edema
Select item 1183	CLCN4 Tests	Intellectual disability, X-linked 49

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