PMID- 12015163
OWN - NLM
STAT- MEDLINE
DCOM- 20020731
LR  - 20190910
IS  - 0387-7604 (Print)
IS  - 0387-7604 (Linking)
VI  - 24
IP  - 4
DP  - 2002 Jun
TI  - Genetic abnormalities underlying familial epilepsy syndromes.
PG  - 211-22
AB  - Genetic defects have been recently identified in certain inherited epilepsy 
      syndromes in which the phenotypes are similar to common idiopathic epilepsies. 
      Mutations in the neuronal nicotinic acetylcholine receptor 4 and 2 subunit genes 
      have been detected in families with autosomal dominant nocturnal frontal lobe 
      epilepsy. Both receptors are components of neuronal acetylcholine receptor, a 
      ligand-gated ion channel in the brain. Furthermore, mutations of two K+-channel 
      genes were also identified as the underlying genetic abnormalities of benign 
      familial neonatal convulsions. Mutations in the voltage-gated Na+-channel 1, 2 
      and 1 and the gamma aminobutyric acid (GABAA) receptor 2 subunit genes were found 
      as a cause of generalized epilepsy with febrile seizures plus, a clinical subset 
      of febrile convulsions. Na+-channels, GABAA receptor and their auxiliaries may be 
      involved in the pathogenesis of this subtype and even in simple febrile 
      convulsions. Mutation of a voltage-gated K+-channel gene can cause partial 
      seizures associated with periodic ataxia type 1 and some forms of juvenile 
      myoclonic epilepsy and idiopathic generalized epilepsy can result from mutations 
      of a Ca2+-channel. This line of evidence suggests the involvement of channels 
      expressed in the brain in the pathogenesis of certain types of epilepsy. Our 
      working hypothesis is to view certain idiopathic epilepsies as disorders of ion 
      channels, i.e. 'channelopathies'. Such hypothesis should provide a new insight to 
      our understanding of the genetic background of epilepsy.
FAU - Hirose, Shinichi
AU  - Hirose S
AD  - Department of Pediatrics, School of Medicine, Fukuoka University, 45-1, 7-chome 
      Nanakuma, Jonan-ku, Japan. hirose@fukuoka-u.ac.jp
FAU - Okada, Motohiro
AU  - Okada M
FAU - Yamakawa, Kazuhiro
AU  - Yamakawa K
FAU - Sugawara, Takashi
AU  - Sugawara T
FAU - Fukuma, Goryu
AU  - Fukuma G
FAU - Ito, Masatoshi
AU  - Ito M
FAU - Kaneko, Sunao
AU  - Kaneko S
FAU - Mitsudome, Akihisa
AU  - Mitsudome A
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - Netherlands
TA  - Brain Dev
JT  - Brain & development
JID - 7909235
RN  - 0 (Ion Channels)
SB  - IM
MH  - Epilepsy, Generalized/*genetics
MH  - Humans
MH  - Ion Channels/chemistry/*genetics
MH  - Protein Conformation
MH  - Seizures, Febrile/*genetics
RF  - 84
EDAT- 2002/05/17 10:00
MHDA- 2002/08/01 10:01
CRDT- 2002/05/17 10:00
PHST- 2002/05/17 10:00 [pubmed]
PHST- 2002/08/01 10:01 [medline]
PHST- 2002/05/17 10:00 [entrez]
AID - S0387760402000566 [pii]
AID - 10.1016/s0387-7604(02)00056-6 [doi]
PST - ppublish
SO  - Brain Dev. 2002 Jun;24(4):211-22. doi: 10.1016/s0387-7604(02)00056-6.