Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0033036 (APC)
 10,214 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amongst idiopathic generalized epilepsies, juvenile myoclonic epilepsy (JME) is the most common, accounting for 12% to 30% of all epilepsies in the Western world. Classic JME consists of awakening myoclonias, grand mal convulsions and EEG 4 to 6 Hz polyspike waves that appear in adolescence. Probands and affected family members do not have pyknoleptic 3Hz spike and wave absences. However, in 10 to 30% of patients, rare or spanioleptic polyspike wave absences appear. In 1988,1995,1996,we mapped classic JME to a 7 cM locus in chromosome 6p12 11, called EJM1, using families from Los Angeles and Belize. In 2001,we studied one large family from Belize and 21 new families from Los Angeles and Mexico Cities, aided by a BAC/PAC based physical map and 6 new dinucleotide repeats, to narrow EJM1 to an interval between D6S272 and D6S1573. In 2002, we found myoclonin, the putative gene for typical JME in 6p12. At the congress, we will reveal the identity of the myoclonin gene, its putative function and discuss the significance of this discovery in the JME population at large.
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PMID:[Juvenile myoclonic epilepsy in chromosome 6p12: clinical and genetic advances]. 1238 99

The idiopathic generalized epilepsies (IGE), for which a genetic cause is widely accepted, account for 20-30% of all epilepsies. Mapping these epilepsies is difficult, but progress in the positional cloning of idiopathic epilepsy genes responsible for monogenic forms provide emerging evidence that many idiopathic epilepsies are caused by mutations in genes coding for ion channels. Here, we show the characterization of a balanced translocation present in three members of a nuclear family, two of them affected with IGE. The translocation involved chromosome 6p21 [t(4;6) (q35;p21)], a region in which a susceptibility locus for IGE (EJM1) has been reported. Fluorescence in situ hybridization analysis with YACs and PACs resulted in the identification of a PAC clone that included the 6p21 translocation breakpoint. The genomic sequence of this PAC clone contains two 2-pore potassium channel genes, TALK-1 and TALK-2. We characterized the genomic organization of both genes, including three different isoforms of TALK-1, and investigated them in IGE patients, finding some polymorphisms in the coding sequence of TALK-1A.
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PMID:Characterization of a 6p21 translocation breakpoint in a family with idiopathic generalized epilepsy. 1464