Literature DB >> 17520076

Advances in genetics of juvenile myoclonic epilepsies.

Antonio V Delgado-Escueta1.   

Abstract

One by one, mutation-containing mendelian genes that cause monogenic juvenile myoclonic epilepsies (JME) and single nucleotide polymorphisms (SNP)-susceptibility alleles that increase risks for nonmendelian complex JME should fall to the power of molecular genetics. Of 15 chromosome loci, 3 mendelian genes (alpha1-subunit of the GABA(A) receptor [GABRA1], chloride channel 2 gene [CLCN2], and Myoclonin1/EFHC1) and 2 SNP-susceptibility alleles of putative JME genes in epistases (bromodomain-containing protein 2 [BRD2] and connexin [Cx]-36) have been identified, so far. Antiepileptic drugs now can be designed against the specific molecular defects of JME.

Entities:  

Year:  2007        PMID： 17520076      PMCID： PMC1874323          DOI： 10.1111/j.1535-7511.2007.00171.x

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN： 1535-7511            Impact factor:   7.500


  46 in total

Review 1.  The relevance of slight migrational disturbances (microdysgenesis) to the etiology of the epilepsies.

Authors:  H J Meencke; G Veith
Journal:  Adv Neurol       Date:  1999

2.  Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

Authors:  F V Elmslie; M Rees; M P Williamson; M Kerr; M J Kjeldsen; K A Pang; A Sundqvist; M L Friis; D Chadwick; A Richens; A Covanis; M Santos; A Arzimanoglou; C P Panayiotopoulos; D Curtis; W P Whitehouse; R M Gardiner
Journal:  Hum Mol Genet       Date:  1997-08       Impact factor: 6.150

3.  Prevalence of epilepsy in rural Bolivia: a door-to-door survey.

Authors:  A Nicoletti; A Reggio; A Bartoloni; G Failla; V Sofia; F Bartalesi; M Roselli; H Gamboa; E Salazar; R Osinaga; F Paradisi; G Tempera; M Dumas; A J Hall
Journal:  Neurology       Date:  1999-12-10       Impact factor: 9.910

4.  Transferability of tag SNPs in genetic association studies in multiple populations.

Authors:  Paul I W de Bakker; Noël P Burtt; Robert R Graham; Candace Guiducci; Roman Yelensky; Jared A Drake; Todd Bersaglieri; Kathryn L Penney; Johannah Butler; Stanton Young; Robert C Onofrio; Helen N Lyon; Daniel O Stram; Christopher A Haiman; Matthew L Freedman; Xiaofeng Zhu; Richard Cooper; Leif Groop; Laurence N Kolonel; Brian E Henderson; Mark J Daly; Joel N Hirschhorn; David Altshuler
Journal:  Nat Genet       Date:  2006-10-22       Impact factor: 38.330

5.  A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26.

Authors:  Ram S Puranam; Satish Jain; Amber M Kleindienst; Shilpa Saxena; Myeong-Kyu Kim; Barbara Kelly Changizi; M V Padma; Ian Andrews; Robert C Elston; Hemant K Tiwari; James O McNamara
Journal:  Ann Neurol       Date:  2005-09       Impact factor: 10.422

6.  Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.

Authors:  Patrick Cossette; Lidong Liu; Katéri Brisebois; Haiheng Dong; Anne Lortie; Michel Vanasse; Jean-Marc Saint-Hilaire; Lionel Carmant; Andrei Verner; Wei-Yang Lu; Yu Tian Wang; Guy A Rouleau
Journal:  Nat Genet       Date:  2002-05-06       Impact factor: 38.330

Review 7.  Genetic association studies in epilepsy: "the truth is out there".

Authors:  Nigel C K Tan; John C Mulley; Samuel F Berkovic
Journal:  Epilepsia       Date:  2004-11       Impact factor: 5.864

8.  Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy.

Authors:  David A Greenberg; Eftihia Cayanis; Lisa Strug; Sudhir Marathe; Martina Durner; Deb K Pal; Gabriele B Alvin; Irene Klotz; Elisa Dicker; Shlomo Shinnar; Edward B Bromfield; Stanley Resor; Jeffrey Cohen; Solomon L Moshe; Cynthia Harden; Harriet Kang
Journal:  Am J Hum Genet       Date:  2004-11-05       Impact factor: 11.025

9.  Juvenile myoclonic epilepsy of Janz.

Authors:  A V Delgado-Escueta; F Enrile-Bacsal
Journal:  Neurology       Date:  1984-03       Impact factor: 9.910

10.  The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

Authors:  J M Serratosa; A V Delgado-Escueta; I Posada; S Shih; I Drury; J Berciano; J A Zabala; M C Antúnez; R S Sparkes
Journal:  Hum Mol Genet       Date:  1995-09       Impact factor: 6.150
View more
  18 in total

1.  EFHC1 interacts with microtubules to regulate cell division and cortical development.

Authors:  Laurence de Nijs; Christine Léon; Laurent Nguyen; Joseph J Loturco; Antonio V Delgado-Escueta; Thierry Grisar; Bernard Lakaye
Journal:  Nat Neurosci       Date:  2009-09-06       Impact factor: 24.884

2.  Association of the GRM4 gene variants with juvenile myoclonic epilepsy in an Indian population.

Authors:  Rashmi Parihar; Rohit Mishra; Sanjeev Kumar Singh; Sita Jayalakshmi; Man Mohan Mehndiratta; Subramaniam Ganesh
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

3.  BRD2 and TAP-1 genes and juvenile myoclonic epilepsy.

Authors:  Samia Layouni; Catherine Buresi; Pierre Thomas; Alain Malafosse; Mohamed Dogui
Journal:  Neurol Sci       Date:  2009-12-02       Impact factor: 3.307

4.  Mutations of EFHC1, linked to juvenile myoclonic epilepsy, disrupt radial and tangential migrations during brain development.

Authors:  Laurence de Nijs; Nathalie Wolkoff; Bernard Coumans; Antonio V Delgado-Escueta; Thierry Grisar; Bernard Lakaye
Journal:  Hum Mol Genet       Date:  2012-08-27       Impact factor: 6.150

Review 5.  Curing epilepsy: progress and future directions.

Authors:  Margaret P Jacobs; Gabrielle G Leblanc; Amy Brooks-Kayal; Frances E Jensen; Dan H Lowenstein; Jeffrey L Noebels; Dennis D Spencer; John W Swann
Journal:  Epilepsy Behav       Date:  2009-03       Impact factor: 2.937

6.  Novel carboxypeptidase A6 (CPA6) mutations identified in patients with juvenile myoclonic and generalized epilepsy.

Authors:  Matthew R Sapio; Monique Vessaz; Pierre Thomas; Pierre Genton; Lloyd D Fricker; Annick Salzmann
Journal:  PLoS One       Date:  2015-04-13       Impact factor: 3.240

Review 7.  Neuropathological Mechanisms of Seizures in Autism Spectrum Disorder.

Authors:  Richard E Frye; Manuel F Casanova; S Hossein Fatemi; Timothy D Folsom; Teri J Reutiman; Gregory L Brown; Stephen M Edelson; John C Slattery; James B Adams
Journal:  Front Neurosci       Date:  2016-05-10       Impact factor: 4.677

8.  Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5-6.0 Hz polyspike waves.

Authors:  Jenny E Wight; Viet-Huong Nguyen; Marco T Medina; Christopher Patterson; Reyna M Durón; Yolly Molina; Yu-Chen Lin; Iris E Martínez-Juárez; Adriana Ochoa; Aurelio Jara-Prado; Miyabi Tanaka; Dongsheng Bai; Sumaya Aftab; Julia N Bailey; Antonio V Delgado-Escueta
Journal:  Mol Genet Genomic Med       Date:  2016-01-23       Impact factor: 2.183

9.  Juvenile myoclonic epilepsy: EFHC1 at the cross-roads?

Authors:  Subramaniam Ganesh
Journal:  Ann Neurosci       Date:  2010-04

10.  Unusual Course of Lafora Disease.

Authors:  Rodi Zutt; Gea Drost; Yvonne J Vos; Jan Willem Elting; Irene Miedema; Marina A J Tijssen; Oebele F Brouwer; Bauke M de Jong
Journal:  Epilepsia Open       Date:  2016-08-25
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.