Association analysis of γ2 subunit of γ-aminobutyric acid (GABA) type A receptor and voltage-gated sodium channel type II α-polypeptide gene mutation in Southern Chinese children with febrile seizures

Journal of Child Neurology

Volumn 22, Issue 6, 2007, Pages 714-719

  Xiumin, Wang ^a   Meichun, Xu ^a   Lizhong, Du ^a  

^a CHILDREN S HOSPITAL OF ZHEJIANG UNIVERSITY SCHOOL OF MEDICINE   (China)

Author keywords

Familial febrile seizures; GABA; Gene mutation; Single nucleotide polymorphisms

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; 4 AMINOBUTYRIC ACID A RECEPTOR GAMMA2; NUCLEOTIDE; SODIUM CHANNEL TYPE II ALPHA POLYPEPTIDE; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL; ARGININE; GABRB2 PROTEIN, HUMAN; LYSINE; METHIONINE; NERVE PROTEIN; SODIUM CHANNEL; SODIUM CHANNEL, VOLTAGE GATED, TYPE II, ALPHA 1; SODIUM CHANNEL, VOLTAGE-GATED, TYPE II, ALPHA 1; TRYPTOPHAN;

ARTICLE; CHILD; CHILDHOOD DISEASE; CHINESE; CONTROLLED STUDY; DNA SEQUENCE; FEBRILE CONVULSION; GENE FREQUENCY; GENE MUTATION; GENETIC ASSOCIATION; GENETIC MARKER; GENETIC SUSCEPTIBILITY; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PREDICTION; PREVALENCE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; CHI SQUARE DISTRIBUTION; CHINA; ETHNOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETICS; INFANT; MUTATION; PRESCHOOL CHILD;

ARGININE; CHI-SQUARE DISTRIBUTION; CHILD; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; FEMALE; GENE FREQUENCY; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; INFANT; LYSINE; MALE; METHIONINE; MUTATION; NERVE TISSUE PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, GABA-A; SEIZURES, FEBRILE; SODIUM CHANNELS; TRYPTOPHAN;

EID: 34447124334     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073807304002     Document Type: Article

References (22)

1. Baumann RJ, Duffner PK Treatment of children with simple febrile seizures: The AAP practice parameter. Pediatr Neurol. 2000; 23: 11-17.
2. Vestergaard M., Basso O., Henriksen TB, et al. Risk factors for febrile convulsions. Epidemiology. 2002; 13: 282-287.
3. +-channel β1-subunit gene SCN1B. Nat Genet. 1998; 19: 366-370.
4. Wallace RH, Marini C., Petrou S., et al. Mutant GABA [A] receptor gamma-2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet. 2001; 28: 49-52.
5. + channel α-II subunit gene Na (v) 1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc Natl Acad Sci U S A. 2001; 98: 6384-6389.
6. Ito M., Shirasaka Y., Hirose S., et al. Seizure phenotypes of a family with missense mutations in SCN2A. Pediatr Neurol. 2004; 31: 150-152.
7. Rhee JS, Jin YH, Akaike N. Developmental changes of GABA (A) receptor-chloride channels in rat Meynert neurons. Brain Res. 1998; 779: 9-16.
8. Ganguly K., Schinder AF, Wong, ST et al. GABA itself promotes the developmental switch of neuronal GABAergic responses from excitation to inhibition. Cell. 2001; 105: 521-532.
9. Greenfield LJ, Zaman SH, Sutherland ML, et al. Mutation of the GABAA receptor M1 transmembrane proline increases GABA affinity and reduces barbiturate enhancement. Neuropharmacology. 2002; 42: 502-521.
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. Chou IC, Peng CT, Huang CC, et al. Association analysis of gamma 2 subunit of gamma-aminobutyric acid type A receptor polymorphisms with febrile seizures. Pediatr Res. 2003; 54: 26-29.
12. Pal DK, Kugler SL, Mandelbaum DE, Durner M. Phenotypic features of familial febrile seizures: Case-control study. Neurology. 2003; 60: 410-414.
13. Reutens DA, Howell RA, Gebert KE, Berkovic SF Validation of a questionnaire for clinical seizure diagnosis. Epilepsia. 1992; 33: 1065-1071.
14. Heron SE, Crossland KM, Andermann E., et al. Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet. 2002; 360: 851-852.
15. Kullmann DM, Hanna MG Neurological disorders caused by inherited ion-channel mutations. Lancet Neurol. 2002; 1: 157-166.
16. Maurice N., Thierry AM, Glowinski J., Deniau JM Spontaneous and evoked activity of substantia nigra pars reticulata neurons during high-frequency stimulation of the subthalamic nucleus. J Neurosci. 2003; 23: 9929-9936.
17. Schmiegelow K., Johnsen AH, Ebbesen F., et al. Gamma-aminobutyric acid concentration in lumbar cerebrospinal fluid from patients with febrile convulsions and controls. Acta Paediatr Scand. 1990; 79: 1092-1098.
18. Casasola C., Montiel T., Calixto E., Brailowsky S. Hyperexcitability induced by GABA withdrawal facilitates hippocampal long-term potentiation. Neuroscience. 2004; 126: 163-171.
19. Yinan M., Yu Q., Zhiyue C., et al. Polymorphisms of casein kinase I gamma 2 gene associated with simple febrile seizures in Chinese Han population. Neurosci Lett. 2004; 68: 2-6.
20. Nakayama J., Yamamoto N., Hamano K., et al. Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18. Neurology. 2004; 63: 1803-1807.
21. Simsek M., Tanira MO, Al-Baloushi KA, et al. Improved detection of the T(341)C polymorphism in human N-acetyltransferase (NAT2) gene by using two complementary PCR-RFLP methods: Better than automated DNA sequencing for detection of heterozygotes. Clin Biochem. 2000; 33 (7): 585-588.
22. Nakayama J., Yamamoto N., Hamano K., et al. Failure to find evidence for association between voltage-gated sodium channel gene SCN2A variants and febrile seizures in humans. Neurosci Lett. 2002; 329: 249-251.