BFIC2

Species Homo sapiens
Epilepsy-Associated Disorder(s) benign familial infantile convulsions
Description benign familial infantile convulsions-2
Chromosome 16
Locus 16p12-q12
Reference(s) Caraballo R, Pavek S, Lemainque A, Gastaldi M, Echenne B, Motte J, Genton P, Cersosimo R, Humbertclaude V, Fejerman N, Monaco AP, Lathrop MG, Rochette J, Szepetowski P. Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome. Am J Hum Genet. 2001 Mar;68(3):788-94. Epub 2001 Feb 13

Lee WL, Tay A, Ong HT, Goh LM, Monaco AP, Szepetowski P. Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family. Hum Genet. 1998 Nov;103(5):608-12.

Roll P, Massacrier A, Pereira S, Robaglia-Schlupp A, Cau P, Szepetowski P. New human sodium/glucose cotransporter gene (KST1): identification, characterization, and mutation analysis in ICCA (infantile convulsions and choreoathetosis) and BFIC (benign familial infantile convulsions) families. Gene. 2002 Feb 20;285(1-2):141-8.

Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP. Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16. Am J Hum Genet. 1997 Oct;61(4):889-98.

Weber YG, Berger A, Bebek N, Maier S, Karafyllakes S, Meyer N, Fukuyama Y, Halbach A, Hikel C, Kurlemann G, Neubauer B, Osawa M, Pust B, Rating D, Saito K, Stephani U, Tauer U, Lehmann-Horn F, Jurkat-Rott K, Lerche H. Benign Familial Infantile Convulsions: Linkage to Chromosome 16p12-q12 in 14 Families. Epilepsia. 2004 Jun;45(6):601-9.

Xiao B, Deng FY, Xiong G, Wang K, Zhang J, Chen XD, Liu YZ, Deng HW. Clinical and genetic study on a new Chinese family with benign familial infantile seizures. Eur J Neurol. 2005 May;12(5):344-9.

[Entrez Cross-Database Search] [Entrez Gene] [GeneCards] [Allen Brain Atlas ]