PMID- 30427063
OWN - NLM
STAT- MEDLINE
DCOM- 20190318
LR  - 20221207
IS  - 1600-0404 (Electronic)
IS  - 0001-6314 (Linking)
VI  - 139
IP  - 3
DP  - 2019 Mar
TI  - Gap Activity TOward Rags 1 variants in Chinese people with sporadic 
      drug-resistant focal epilepsy.
PG  - 247-253
LID - 10.1111/ane.13046 [doi]
AB  - OBJECTIVES: GATOR1 (Gap Activity TOward Rags 1) is composed of three different 
      subunits, DEPDC5 (DEP domain-containing protein 5), NPRL2 (nitrogen permease 
      regulator-like 2) and NPRL3 (nitrogen permease regulator-like 3), and variants in 
      these three genes have mostly been reported in familial focal epilepsy. However, 
      very few studies have been carried out on sporadic drug-resistant focal epilepsy 
      patients. In this study, we aimed to identify the frequency of variants in 
      DEPDC5, NPRL2 and NPRL3 in patients with sporadic drug-resistant focal epilepsy. 
      MATERIALS & METHODS: One hundred and ninety-three Chinese people with sporadic 
      drug-resistant focal epilepsy were enrolled in the study. Targeted sequencing of 
      DEPDC5, NPRL2 and NPRL3 was applied at an average coverage depth of 2500x. 
      RESULTS: In the 193 patients with sporadic focal epilepsy included in this study, 
      the median age was 24.6 years with a median age at onset of 13.99 years, and 130 
      of these patients had identifiable structural lesions. One possibly pathogenic 
      missense variant of DEPDC5, c.2984G>A, p.Arg995His, was found in one patient 
      (0.52%) with hippocampal sclerosis, and one variant of unknown significance, 
      DEPDC5 c.20A>G, p.Tyr7Cys, was found in two patients with hippocampal sclerosis 
      (1.04%). CONCLUSIONS: Our findings suggested that DEPDC5 might be of more 
      importance than NPRL2 or NPRL3 in Chinese epilepsy patients with sporadic 
      drug-resistant focal epilepsy. Future research should focus on the mechanism by 
      which the mechanistic target of rapamycin (mTOR) is involved in epileptogenesis 
      in sporadic epilepsy.
CI  - (c) 2018 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
FAU - Xiong, Weixi
AU  - Xiong W
AUID- ORCID: 0000-0001-6835-8664
AD  - Department of Neurology, West China Hospital of Sichuan University, Chengdu, 
      China.
FAU - Tang, Lin
AU  - Tang L
AD  - Department of Neurology, West China Hospital of Sichuan University, Chengdu, 
      China.
FAU - Lu, Lu
AU  - Lu L
AD  - Department of Neurology, West China Hospital of Sichuan University, Chengdu, 
      China.
FAU - Zhang, Le
AU  - Zhang L
AD  - Department of Neurology, West China Hospital of Sichuan University, Chengdu, 
      China.
FAU - Xiao, Yingfeng
AU  - Xiao Y
AD  - Department of Neurology, West China Hospital of Sichuan University, Chengdu, 
      China.
FAU - Zhou, Dong
AU  - Zhou D
AUID- ORCID: 0000-0001-7101-4125
AD  - Department of Neurology, West China Hospital of Sichuan University, Chengdu, 
      China.
LA  - eng
SI  - GENBANK/NM_001242896.1
SI  - GENBANK/NM_006545
SI  - GENBANK/NM_001077350
GR  - 81801294/National Natural Science Foundation of China/
GR  - 81420108014/National Natural Science Foundation of China/
GR  - 81371529/National Natural Science Foundation of China/
GR  - 2017M620427/China Postdoctoral Science Foundation/
GR  - 2018SCU12038/Postdoctoral Research Foundation of Sichuan University/
PT  - Journal Article
DEP - 20181213
PL  - Denmark
TA  - Acta Neurol Scand
JT  - Acta neurologica Scandinavica
JID - 0370336
RN  - 0 (DEPDC5 protein, human)
RN  - 0 (GTPase-Activating Proteins)
RN  - 0 (NPRL2 protein, human)
RN  - 0 (NPRL3 protein, human)
RN  - 0 (Repressor Proteins)
RN  - 0 (Tumor Suppressor Proteins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Asian People/genetics
MH  - Drug Resistant Epilepsy/*genetics
MH  - Female
MH  - GTPase-Activating Proteins/*genetics
MH  - Genetic Variation
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Repressor Proteins/*genetics
MH  - Tumor Suppressor Proteins/*genetics
MH  - Young Adult
OTO - NOTNLM
OT  - epilepsy
OT  - neurogenetics
OT  - seizures
EDAT- 2018/11/15 06:00
MHDA- 2019/03/19 06:00
CRDT- 2018/11/15 06:00
PHST- 2018/09/05 00:00 [received]
PHST- 2018/10/17 00:00 [revised]
PHST- 2018/11/04 00:00 [accepted]
PHST- 2018/11/15 06:00 [pubmed]
PHST- 2019/03/19 06:00 [medline]
PHST- 2018/11/15 06:00 [entrez]
AID - 10.1111/ane.13046 [doi]
PST - ppublish
SO  - Acta Neurol Scand. 2019 Mar;139(3):247-253. doi: 10.1111/ane.13046. Epub 2018 Dec 
      13.