A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures

Annals of Neurology

Volumn 52, Issue 5, 2002, Pages 654-657

  Nakayama, Junko ^a,b   Fu, Ying Hui ^c   Clark, Anna M ^d   Nakahara, Satoko ^e   Hamano, Kenzo ^f   Iwasaki, Nobuaki ^b   Matsui, Akira ^b   Arinami, Tadao ^a,b   Ptáček, Louis J ^d,g,h  

^a Department of Medical Genetics   (Japan)

^b UNIVERSITY OF TSUKUBA   (Japan)

^c Department of Neurobiology and Anatomy ^*

^d HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^e Kensei General Hospital   (Japan)

^f Kitaibaraki Municipal General Hospital   (Japan)

^g UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^h UNIVERSITY OF UTAH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANIMAL CELL; ARTICLE; AUDIOGENIC SEIZURE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME 5Q; CONTROLLED STUDY; DNA POLYMORPHISM; DNA STRUCTURE; FAMILIAL DISEASE; FEB4 GENE; FEBRILE CONVULSION; GENE DELETION; GENE FUNCTION; GENE MAPPING; GENETIC ASSOCIATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MASS1 GENE; MOUSE; NONHUMAN; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; SEIZURE; STATISTICAL SIGNIFICANCE; STRAIN IDENTIFICATION;

BASE SEQUENCE; CHILD; CODON, NONSENSE; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; NERVE TISSUE PROTEINS; PEDIGREE; RECEPTORS, G-PROTEIN-COUPLED; SEIZURES; SEIZURES, FEBRILE;

EID: 0036828830     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.10347     Document Type: Article

References (16)

1. Verity CM, Butler NR, Golding J. Febrile convulsions in a national cohort followed up from birth. II. Medical history and intellectual ability at 5 years of age. Br Med J (Clin Res Ed) 1985;290:1311-1315.
2. Bird TD. Genetic considerations in childhood epilepsy. Epilepsia 1987;28(suppl 1):S71-S81.
3. Wallace RH, Berkovic SF, Howell RA, et al. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21. J Med Genet 1996;33:308-312.
4. Johnson EW, Dubovsky J, Rich SS, et al. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest. Hum Mol Genet 1998;7:63-67.
5. Peiffer A, Thompson J, Charlier C, et al. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neurol 1999;46:671-678.
6. Nakayama J, Hamano K, Iwasaki N, et al. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15. Hum Mol Genet 2000;9:87-91.
7. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120:479-490.
8. Wallace RH, Wang DW, Singh R, et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel betal subunit gene SCN1B. Nat Genet 1998;19:366-370.
9. Escayg A, MacDonald BT, Meisler MH, et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet 2000;24:343-345.
10. 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 2001;28:46-48.
11. Meisler MH, Kearney J, Ottman R, Escayg A. Identification of epilepsy genes in human and mouse. Annu Rev Genet 2001;35:567-588.
12. Skradski SL, White HS, Ptacek LJ. Genetic mapping of a locus (mass1) causing audiogenic seizures in mice. Genomics 1998;49:188-192.
13. Skradski SL, Clark AM, Jiang H, et al. A novel gene causing a mendelian audiogenic mouse epilepsy. Neuron 2001;31:537-544.
14. Freeman JM. Consensus statement-febrile seizures: A consensus of their significance, evaluation, and treatment. Pediatrics 1980;66:1009-1012.
15. Nikkila H, McMillan DR, Nunez BS, et al. Sequence similarities between a novel putative G protein-coupled receptor and Na+/Ca2+ exchangers define a cation binding domain. Mol Endocrinol 2000;14:1351-1364.
16. McMillan DR, Kayes-Wandover KM, Richardson JA, White PC. Very large G protein-coupled receptor-1, the largest known cell surface protein, is highly expressed in the developing central nervous system. J Biol Chem 2002;277:785-792.