PMID- 30370865
OWN - NLM
STAT- MEDLINE
DCOM- 20200805
LR  - 20200805
IS  - 1996-3181 (Electronic)
IS  - 1871-5273 (Linking)
VI  - 18
IP  - 4
DP  - 2019
TI  - Understanding Genotypes and Phenotypes of the Mutations in Voltage- Gated Sodium 
      Channel alpha Subunits in Epilepsy.
PG  - 266-272
LID - 10.2174/1871527317666181026164825 [doi]
AB  - BACKGROUND & OBJECTIVE: Voltage-gated sodium channels (VGSCs) are responsible for 
      the generation and propagation of action potentials in most excitable cells. In 
      general, a VGSC consists of one pore-forming alpha subunit and two auxiliary beta 
      subunits. Genetic alterations in VGSCs genes, including both alpha and beta subunits, 
      are considered to be associated with epileptogenesis as well as seizures. This 
      review aims to summarize the mutations in VGSC alpha subunits in epilepsy, 
      particularly the pathophysiological and pharmacological properties of relevant 
      VGSC mutants. CONCLUSION: The review of epilepsy-associated VGSC alpha subunits 
      mutants may not only contribute to the understanding of disease mechanism and 
      genetic modifiers, but also provide potential theoretical targets for the 
      precision and individualized medicine for epilepsy.
CI  - Copyright(c) Bentham Science Publishers; For any queries, please email at 
      epub@benthamscience.net.
FAU - Feng, Yijun
AU  - Feng Y
AD  - Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, 
      Shanghai 200444, China.
FAU - Zhang, Shuzhang
AU  - Zhang S
AD  - Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, 
      Shanghai 200444, China.
FAU - Zhang, Zhiping
AU  - Zhang Z
AD  - Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, 
      Shanghai 200444, China.
FAU - Guo, Jingkang
AU  - Guo J
AD  - Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, 
      Shanghai 200444, China.
FAU - Tan, Zhiyong
AU  - Tan Z
AD  - Department of Pharmacology and Toxicology and Stark Neurosciences Research 
      Institute, Indiana University School of Medicine, Indianapolis, IN, 46202, United 
      States.
FAU - Zhu, Yudan
AU  - Zhu Y
AD  - Central Laboratory, Department of Neurology and Neurosurgery, Putuo Hospital, 
      Shanghai University of Traditional Chinese Medicine, Shanghai, China.
FAU - Tao, Jie
AU  - Tao J
AD  - Central Laboratory, Department of Neurology and Neurosurgery, Putuo Hospital, 
      Shanghai University of Traditional Chinese Medicine, Shanghai, China.
FAU - Ji, Yong-Hua
AU  - Ji YH
AD  - Laboratory of Neuropharmacology and Neurotoxicology, Shanghai University, 
      Shanghai 200444, China.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, Non-P.H.S.
PT  - Review
PL  - United Arab Emirates
TA  - CNS Neurol Disord Drug Targets
JT  - CNS & neurological disorders drug targets
JID - 101269155
RN  - 0 (Voltage-Gated Sodium Channels)
SB  - IM
MH  - Action Potentials/genetics
MH  - Animals
MH  - Epilepsy/*genetics
MH  - *Genotype
MH  - Humans
MH  - *Mutation
MH  - *Phenotype
MH  - Voltage-Gated Sodium Channels/*genetics
OTO - NOTNLM
OT  - Voltage-gated sodium channels
OT  - epilepsy
OT  - mutation
OT  - pathophysiological
OT  - seizures
OT  - alpha subunits.
EDAT- 2018/10/30 06:00
MHDA- 2020/08/06 06:00
CRDT- 2018/10/30 06:00
PHST- 2018/01/26 00:00 [received]
PHST- 2018/05/16 00:00 [revised]
PHST- 2018/05/16 00:00 [accepted]
PHST- 2018/10/30 06:00 [pubmed]
PHST- 2020/08/06 06:00 [medline]
PHST- 2018/10/30 06:00 [entrez]
AID - CNSNDDT-EPUB-94038 [pii]
AID - 10.2174/1871527317666181026164825 [doi]
PST - ppublish
SO  - CNS Neurol Disord Drug Targets. 2019;18(4):266-272. doi: 
      10.2174/1871527317666181026164825.