Literature DB >> 17431681

A novel genetic locus for juvenile myoclonic epilepsy at chromosome 5q12-q14.

Ashish Kapoor1, R Ratnapriya, Gigy Kuruttukulam, Anuranjan Anand.   

Abstract

Juvenile myoclonic epilepsy is a clinically well-defined, age-related common idiopathic generalized epilepsy syndrome with substantial genetic basis to its etiology. We report identification of a novel epilepsy locus at chromosome 5q12-q14 in a family exhibiting autosomal dominant form of juvenile myoclonic epilepsy from south India. The highest two-point LOD score of 3.3344 was obtained for the microsatellite markers D5S641 and D5S459 at 5q14. Centromeric and telomeric chromosomal boundaries of the locus were defined by D5S624 and D5S428, respectively. The 5q12-q14 locus encompasses about 25 megabases of the genomic region and harbours several candidate genes. Further work involving a detailed mutational analysis of the locus, to isolate the gene responsible for the epilepsy disorder in the family, shall help enhance our understanding of molecular basis of epilepsy disorders.

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Year:  2007        PMID： 17431681     DOI： 10.1007/s00439-007-0360-0

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   5.881


  32 in total

1.  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

2.  Refined mapping of the epilepsy susceptibility locus EJM1 on chromosome 6.

Authors:  T Sander; B Bockenkamp; T Hildmann; R Blasczyk; R Kretz; T F Wienker; A Volz; B Schmitz; G Beck-Mannagetta; O Riess; J T Epplen; D Janz; A Ziegler
Journal:  Neurology       Date:  1997-09       Impact factor: 9.910

3.  The syndromic classification of the International League Against Epilepsy: a hospital-based study from South India.

Authors:  J M Murthy; R Yangala; M Srinivas
Journal:  Epilepsia       Date:  1998-01       Impact factor: 5.864

4.  Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus.

Authors:  Louise A Harkin; David N Bowser; Leanne M Dibbens; Rita Singh; Fiona Phillips; Robyn H Wallace; Michaella C Richards; David A Williams; John C Mulley; Samuel F Berkovic; Ingrid E Scheffer; Steven Petrou
Journal:  Am J Hum Genet       Date:  2001-12-17       Impact factor: 11.025

5.  Genome scan of idiopathic generalized epilepsy: evidence for major susceptibility gene and modifying genes influencing the seizure type.

Authors:  M Durner; M A Keddache; L Tomasini; S Shinnar; S R Resor; J Cohen; C Harden; S L Moshe; D Rosenbaum; H Kang; K Ballaban-Gil; S Hertz; D R Labar; D Luciano; S Wallace; D Yohai; I Klotz; E Dicker; D A Greenberg
Journal:  Ann Neurol       Date:  2001-03       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

7.  Epilepsies in twins: genetics of the major epilepsy syndromes.

Authors:  S F Berkovic; R A Howell; D A Hay; J L Hopper
Journal:  Ann Neurol       Date:  1998-04       Impact factor: 10.422

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.  Correlation of transcriptome profile with electrical activity in temporal lobe epilepsy.

Authors:  Dominique Arion; Michael Sabatini; Travis Unger; Jesús Pastor; Lidia Alonso-Nanclares; Inmaculada Ballesteros-Yáñez; Rafael García Sola; Alberto Muñoz; Károly Mirnics; Javier DeFelipe
Journal:  Neurobiol Dis       Date:  2006-02-09       Impact factor: 5.996

Review 10.  The genetics of idiopathic generalized epilepsy: implications for the understanding of its aetiology.

Authors:  T Sander
Journal:  Mol Med Today       Date:  1996-04
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  3 in total

1.  A locus for juvenile myoclonic epilepsy maps to 2q33-q36.

Authors:  Rinki Ratnapriya; Joseph Vijai; Jayaram S Kadandale; Rajesh S Iyer; Kurupath Radhakrishnan; Anuranjan Anand
Journal:  Hum Genet       Date:  2010-05-14       Impact factor: 4.132

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.  KIF2A regulates the development of dentate granule cells and postnatal hippocampal wiring.

Authors:  Noriko Homma; Ruyun Zhou; Muhammad Imran Naseer; Adeel G Chaudhary; Mohammed H Al-Qahtani; Nobutaka Hirokawa
Journal:  Elife       Date:  2018-01-09       Impact factor: 8.140
  3 in total

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