PMID- 8293722
OWN - NLM
STAT- MEDLINE
DCOM- 19940303
LR  - 20190813
IS  - 0013-9580 (Print)
IS  - 0013-9580 (Linking)
VI  - 35 Suppl 1
DP  - 1994
TI  - Progress in mapping human epilepsy genes.
PG  - S29-40
AB  - The chromosomal loci for seven epilepsy genes have been identified in chromosomes 
      1q, 6p, 8q, 16p, 20q, 21q, and 22q. In 1987, the first epilepsy locus was mapped 
      in a common benign idiopathic generalized epilepsy syndrome, juvenile myoclonic 
      epilepsy (JME). Properdin factor or Bf, human leukocyte antigen (HLA), and DNA 
      markers in the HLA-DQ region were genetically linked to JME and the locus, named 
      EJM1, was assigned to the short arm of chromosome 6. Our latest studies, as well 
      as those by Whitehouse et al., show that not all families with JME have their 
      genetic locus in chromosome 6p, and that childhood absence epilepsy does not map 
      to the same EJM1 locus. Recent results, therefore, favor genetic heterogeneity 
      for JME and for the common idiopathic generalized epilepsies. Heterogeneity also 
      exists in benign familial neonatal convulsions, a rare form of idiopathic 
      generalized epilepsy. Two loci are now recognized; one in chromosome 20q (EBN1) 
      and another in chromosome 8q. Heterogeneity also exists for the broad group of 
      debilitating and often fatal progressive myoclonus epilepsies (PME). The gene 
      locus (EPM1) for both the Baltic and Mediterranean types of PME or 
      Unverricht-Lundborg disease is the same and is located in the long arm of 
      chromosome 21. Lafora type of PME does not map to the same EPM1 locus in 
      chromosome 21. PME can be caused by the juvenile type of Gaucher's disease, which 
      maps to chromosome 1q, by the juvenile type of neuronal ceroid lipofuscinoses 
      (CLN3), which maps to chromosome 16p, and by the "cherry-red-spot-myoclonus" 
      syndrome of Guazzi or sialidosis type I, which has been localized to chromosome 
      10. A point mutation in the mitochondrial tRNA(Lys) coding gene can also cause 
      PME in children and adults (MERFF).
FAU - Delgado-Escueta, A V
AU  - Delgado-Escueta AV
AD  - California Comprehensive Epilepsy Program, West Los Angeles Veterans Affairs 
      Medical Center 90073.
FAU - Serratosa, J M
AU  - Serratosa JM
FAU - Liu, A
AU  - Liu A
FAU - Weissbecker, K
AU  - Weissbecker K
FAU - Medina, M T
AU  - Medina MT
FAU - Gee, M
AU  - Gee M
FAU - Treiman, L J
AU  - Treiman LJ
FAU - Sparkes, R S
AU  - Sparkes RS
LA  - eng
GR  - NS21908/NS/NINDS NIH HHS/United States
PT  - Journal Article
PT  - Research Support, U.S. Gov't, P.H.S.
PT  - Review
PL  - United States
TA  - Epilepsia
JT  - Epilepsia
JID - 2983306R
RN  - 0 (Genetic Markers)
SB  - IM
MH  - *Chromosome Mapping
MH  - Chromosomes, Human, Pair 6
MH  - Epilepsies, Myoclonic/genetics
MH  - Epilepsy/*genetics
MH  - Genetic Linkage
MH  - Genetic Markers
MH  - Humans
MH  - Lod Score
RF  - 65
EDAT- 1994/01/01 00:00
MHDA- 1994/01/01 00:01
CRDT- 1994/01/01 00:00
PHST- 1994/01/01 00:00 [pubmed]
PHST- 1994/01/01 00:01 [medline]
PHST- 1994/01/01 00:00 [entrez]
AID - 10.1111/j.1528-1157.1994.tb05926.x [doi]
PST - ppublish
SO  - Epilepsia. 1994;35 Suppl 1:S29-40. doi: 10.1111/j.1528-1157.1994.tb05926.x.