Citations for
1BFIS2, EKD1, ICCA, PRRT2
PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome.
Heron SE, Grinton BE, Kivity S, Afawi Z, Zuberi SM, Hughes JN, Pridmore C, Hodgson BL, Iona X, Sadleir LG, Pelekanos J, Herlenius E, Goldberg-Stern H, Bassan H, Haan E, Korczyn AD, Gardner AE, Corbett MA, Gécz J, Thomas PQ, Mulley JC, Berkovic SF, Scheffer IE, Dibbens LM.
Am J Hum Genet 90(1):152-60. 2012
2ICCA
Genetics of infantile seizures with paroxysmal dyskinesia: the infantile convulsions and choreoathetosis (ICCA) and ICCA-related syndromes.
Rochette J, Roll P, Szepetowski P.
J Med Genet 45(12):773-9. Review. 2008
3ICCA, SEZ6L2
Refinement of the chromosome 16 locus for benign familial infantile convulsions.
Callenbach PM, van den Boogerd EH, de Coo RF, ten Houten R, Oosterwijk JC, Hageman G, Frants RR, Brouwer OF, van den Maagdenberg AM.
Clin Genet 67(6):517-25. 2005
4ICCA
Benign familial infantile convulsions: linkage to chromosome 16p12-q12 in 14 families.
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.
Epilepsia 45(6):601-9. 2004
5ICCA
Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.
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.
Am J Hum Genet 68(3):788-94. 2001
6CACNG2, CACNG3, ICCA
Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications.
Black JL 3rd, et al.
Mayo Clin Proc 74(4):357-61. 1999
7ICCA
Association of infantile convulsions with paroxysmal dyskinesias (ICCa syndrome) : confirmation of linkage to human chromosome 16p12-q12 in a Chinese family.
Lee WL, et al.
Hum Genet 103 : 608-612. 1998
8ICCA
Familial infantile convulsions and paroxysmal choreoathetosis : a new neurological syndrome linked to the pericentromeric region of human chromosome 16.
Szepetowski P, Rochette J, Berquin P, Piussan C, Lathrop GM, Monaco AP.
Am J Hum Genet 61(4):889-98. 1997