Mutations in GABA-receptor genes cause human epilepsy

Lancet Neurology

Volumn 1, Issue 4, 2002, Pages 212-

  Wallace, Robyn ^a  

^a UNIVERSITY OF TENNESSEE HEALTH SCIENCE CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; ALANINE; ANTICONVULSIVE AGENT; ASPARTIC ACID; CHLORIDE; NEUROTRANSMITTER; RECEPTOR SUBUNIT;

4 AMINOBUTYRIC ACID RELEASE; AMINO ACID SUBSTITUTION; CHLORIDE TRANSPORT; DRUG TARGETING; EPILEPSY; EPILEPTOGENESIS; FAMILIAL DISEASE; GABAERGIC SYSTEM; GENE MUTATION; GENETIC PREDISPOSITION; HUMAN; INHERITANCE; KIDNEY CELL; NONHUMAN; PRIORITY JOURNAL; SHORT SURVEY; SIDE EFFECT; SYNAPSE; ARTICLE; GENETICS; MUTATION; MYOCLONUS EPILEPSY;

HUMANS; MUTATION; MYOCLONIC EPILEPSY, JUVENILE; RECEPTORS, GABA;

EID: 0042469018     PISSN: 14744422     EISSN: None     Source Type: Journal    
DOI: 10.1016/S1474-4422(02)00098-4     Document Type: Letter

References (5)

1. Treiman D.M. GABAergic mechanisms in epilepsy. Epilepsia. 42:(suppl 3):2001;8-12.
2. Baulac S., Huberfeld G., Gourfinkel-An I., et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet. 28:2001;46-48.
3. Wallace R.H., Marini C., Petrou S., et al. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 28:2001;49-52.
4. Harkin L.A., Bowser D.N., Dibbens L.M., et al. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet. 70:2002;530-536.
5. Cossette P., Liu L., Brisebois K., et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 31:2002;184-189.