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Microtubule-associated defects caused by EFHC1 mutations in juvenile myoclonic epilepsy.
Raju PK, Satishchandra P, Nayak S, Iyer V, Sinha S, Anand A. Raju PK, et al. Hum Mutat. 2017 Jul;38(7):816-826. doi: 10.1002/humu.23221. Epub 2017 May 2. Hum Mutat. 2017. PMID: 28370826
Juvenile myoclonic epilepsy (JME) is a common form of epilepsy with a substantial genetic basis to its etiology. While earlier studies have identified EFHC1 as a causative gene for JME, subsequent studies have suggested that ethnicity may play a role in determining express …
Juvenile myoclonic epilepsy (JME) is a common form of epilepsy with a substantial genetic basis to its etiology. While earlier studies have …
Mutational Analysis of Myoclonin1 Gene in Pakistani Juvenile Myoclonic Epilepsy Patients.
Saleem T, Mustafa A, Sheikh N, Mukhtar M, Irfan M, Suqaina SK. Saleem T, et al. Biomed Res Int. 2021 Apr 20;2021:7509825. doi: 10.1155/2021/7509825. eCollection 2021. Biomed Res Int. 2021. PMID: 33969125 Free PMC article.
A case-control study was conducted on Pakistani JME patients for the first time, aimed at finding out EFHC1 mutations that have been reported in different populations. ...While the absence of a majority of previously reported mutations in our population suggests that most …
A case-control study was conducted on Pakistani JME patients for the first time, aimed at finding out EFHC1 mutations that have been …
Clinical application of trio-based whole-exome sequencing in idiopathic generalized epilepsy.
Lin ZJ, Li B, Lin PX, Song W, Yan LM, Meng H, He N. Lin ZJ, et al. Seizure. 2024 Mar;116:24-29. doi: 10.1016/j.seizure.2023.02.011. Epub 2023 Feb 11. Seizure. 2024. PMID: 36842888 Free article.
These variants included CLCN4 hemizygous variant (c.2044G>A/p.Glu682Lys) and IQSEC2 heterozygous variant (c.4315C>T/p.Pro1439Ser) in juvenile absence epilepsy, EFHC1 variant (c.1504C>T/p.Arg502Trp) and CACNA1H (c.589G>T/p.Ala197Ser) both with incomplete penetra …
These variants included CLCN4 hemizygous variant (c.2044G>A/p.Glu682Lys) and IQSEC2 heterozygous variant (c.4315C>T/p.Pro1439Ser) in j …
Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.
Gonsales MC, Ribeiro PAO, Betting LE, Alvim MKM, Guerreiro CM, Yasuda CL, Gitaí DLG, Cendes F, Lopes-Cendes I. Gonsales MC, et al. Epilepsy Behav. 2020 Nov;112:107469. doi: 10.1016/j.yebeh.2020.107469. Epub 2020 Sep 29. Epilepsy Behav. 2020. PMID: 33181902
The most common form of genetic generalized epilepsy (GGE) is juvenile myoclonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy cases. The gene EFHC1 has been implicated as a putative cause of JME. However, it remains debatable whether testing for EFHC1 …
The most common form of genetic generalized epilepsy (GGE) is juvenile myoclonic epilepsy (JME), which accounts for 5 to 10% of all epilepsy …
EFHC1 gene mutation profile of Turkish JME patients and its association with disease risk.
Aslan-Kara K, Dündar-Yenilmez E, Ateş E, Alparslan MM, Peköz T, Bozdemir H, Tuli A. Aslan-Kara K, et al. Seizure. 2024 Jan;114:79-83. doi: 10.1016/j.seizure.2023.12.002. Epub 2023 Dec 3. Seizure. 2024. PMID: 38088014
OBJECTIVES: Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy with an important genetic component. This cohort study aimed to examine the frequency of EFHC1 gene variants in Turkish JME patients and a healthy control group and evaluate the associat …
OBJECTIVES: Juvenile myoclonic epilepsy (JME) is a common form of generalized epilepsy with an important genetic component. This cohort stud …
Targeted gene sequencing in 6994 individuals with neurodevelopmental disorder with epilepsy.
Heyne HO, Artomov M, Battke F, Bianchini C, Smith DR, Liebmann N, Tadigotla V, Stanley CM, Lal D, Rehm H, Lerche H, Daly MJ, Helbig I, Biskup S, Weber YG, Lemke JR. Heyne HO, et al. Genet Med. 2019 Nov;21(11):2496-2503. doi: 10.1038/s41436-019-0531-0. Epub 2019 May 6. Genet Med. 2019. PMID: 31056551 Free article.
Among genes with contradictory evidence of association with epilepsy, CACNB4, CLCN2, EFHC1, GABRD, MAGI2, and SRPX2 showed equal frequencies in cases and controls. ...
Among genes with contradictory evidence of association with epilepsy, CACNB4, CLCN2, EFHC1, GABRD, MAGI2, and SRPX2 showed equal freq …