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Absence of GABRA1 Ala322Asp mutation in juvenile myoclonic epilepsy families from India.
Kapoor A, Vijai J, Ravishankar HM, Satishchandra P, Radhakrishnan K, Anand A. Kapoor A, et al. J Genet. 2003 Apr-Aug;82(1-2):17-21. doi: 10.1007/BF02715876. J Genet. 2003. PMID: 14631097
An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of juvenile myoclonic epilepsy (JME) in a French-Canadian family. ...To evaluate the possibility of other mutation(s) in and a …
An Ala322Asp mutation in the GABRA1 gene was recently reported to be responsible for causing the autosomal dominant (AD) form of j …
Subtle Brain Developmental Abnormalities in the Pathogenesis of Juvenile Myoclonic Epilepsy.
Gilsoul M, Grisar T, Delgado-Escueta AV, de Nijs L, Lakaye B. Gilsoul M, et al. Front Cell Neurosci. 2019 Sep 27;13:433. doi: 10.3389/fncel.2019.00433. eCollection 2019. Front Cell Neurosci. 2019. PMID: 31611775 Free PMC article. Review.
Juvenile myoclonic epilepsy (JME), a lifelong disorder that starts during adolescence, is the most common of genetic generalized epilepsy syndromes. JME is characterized by awakening myoclonic jerks and myoclonic-tonic-clonic (m-t-c) gran …
Juvenile myoclonic epilepsy (JME), a lifelong disorder that starts during adolescence, is the most common of genetic ge …
The quest for juvenile myoclonic epilepsy genes.
Delgado-Escueta AV, Koeleman BP, Bailey JN, Medina MT, Durón RM. Delgado-Escueta AV, et al. Epilepsy Behav. 2013 Jul;28 Suppl 1:S52-7. doi: 10.1016/j.yebeh.2012.06.033. Epilepsy Behav. 2013. PMID: 23756480 Review.
Introduced into a specific population, a juvenile myoclonic epilepsy (JME) mutation generates linkage disequilibrium (LD). Linkage disequilibrium is strongest when the JME mutation is of recent origin, still "hitchhiking" alleles surrounding it, as a haplotyp …
Introduced into a specific population, a juvenile myoclonic epilepsy (JME) mutation generates linkage disequilibrium (L …
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA. Cossette P, et al. Nat Genet. 2002 Jun;31(2):184-9. doi: 10.1038/ng885. Epub 2002 May 6. Nat Genet. 2002. PMID: 11992121
Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the alpha …
Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiop …
Juvenile myoclonic epilepsy mimic associated with CHD2 gene mutation.
Singh N, Ritaccio A. Singh N, et al. Epilepsy Behav Rep. 2020 Jan 7;13:100355. doi: 10.1016/j.ebr.2019.100355. eCollection 2020. Epilepsy Behav Rep. 2020. PMID: 31993582 Free PMC article.
This paper reports the electroclinical manifestations of an epilepsy syndrome associated with a chromodomain helicase DNA-binding protein 2 (CHD2) gene mutation with clinical semiology and electroencephalographic (EEG) features consistent with juvenile myoclonic …
This paper reports the electroclinical manifestations of an epilepsy syndrome associated with a chromodomain helicase DNA-binding pro …
Juvenile myoclonic epilepsy.
Khan S. Khan S. Neurosciences (Riyadh). 2010 Jul;15(3):219-20. Neurosciences (Riyadh). 2010. PMID: 20831037 No abstract available.
Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.
Ma S, Blair MA, Abou-Khalil B, Lagrange AH, Gurnett CA, Hedera P. Ma S, et al. Epilepsy Res. 2006 Oct;71(2-3):129-34. doi: 10.1016/j.eplepsyres.2006.06.001. Epub 2006 Jul 12. Epilepsy Res. 2006. PMID: 16839746
Juvenile myoclonic epilepsy (JME), accounting for approximately 25% of idiopathic generalized epilepsies, is genetically heterogeneous. ...Our data suggests that the majority of familial AD JME is not caused by mutations in the GABRA1 and EFHC1 genes.. …
Juvenile myoclonic epilepsy (JME), accounting for approximately 25% of idiopathic generalized epilepsies, is geneticall …
Attention-Deficit Disorders and Epilepsy.
Maheshwari A. Maheshwari A. In: Noebels JL, Avoli M, Rogawski MA, Vezzani A, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 58. In: Noebels JL, Avoli M, Rogawski MA, Vezzani A, Delgado-Escueta AV, editors. Jasper's Basic Mechanisms of the Epilepsies. 5th edition. New York: Oxford University Press; 2024. Chapter 58. PMID: 39637130 Free Books & Documents. Review.
Epilepsy syndromes such as Dravet syndrome, juvenile myoclonic epilepsy, childhood absence epilepsy, and fragile X syndrome all have a high prevalence of ADHD. Many of these epilepsy syndromes are associated with monogenic mutations that …
Epilepsy syndromes such as Dravet syndrome, juvenile myoclonic epilepsy, childhood absence epilepsy, and …
Dynamics of sensorimotor cortex activation during absence and myoclonic seizures in a mouse model of juvenile myoclonic epilepsy.
Ding L, Gallagher MJ. Ding L, et al. Epilepsia. 2016 Oct;57(10):1568-1580. doi: 10.1111/epi.13493. Epub 2016 Aug 30. Epilepsia. 2016. PMID: 27573707 Free PMC article.
Recently, we reported that mice with a juvenile myoclonic epilepsy mutation (Gabra1[A322D]) exhibited both absence and myoclonic generalized seizures. ...The distribution of spike voltage was also measured in SWDs and myoclonic seizures. …
Recently, we reported that mice with a juvenile myoclonic epilepsy mutation (Gabra1[A322D]) exhibited both absen …
30 results