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

Publication ,  Journal Article
Puranam, RS; Jain, S; Kleindienst, AM; Saxena, S; Kim, M-K; Kelly Changizi, B; Padma, MV; Andrews, I; Elston, RC; Tiwari, HK; McNamara, JO
Published in: Ann Neurol
September 2005

Inheritance patterns in twins and multiplex families led us to hypothesize that two loci were segregating in subjects with juvenile myoclonic epilepsy (JME), one predisposing to generalized tonic-clonic seizures (GTCS) and a second to myoclonic seizures. We tested this hypothesis by performing genome-wide scan of a large family (Family 01) and used the results to guide analyses of additional families. A locus was identified in Family 01 that was linked to GTCS (10q25-q26). Model-based multipoint analysis of the 10q25-q26 locus showed a logarithm of odds (LOD) score of 2.85; similar results were obtained with model-free analyses (maximum nonparametric linkage [NPL] of 2.71; p = 0.0019). Analyses of the 10q25-q26 locus in 10 additional families assuming heterogeneity revealed evidence for linkage in four families; model-based and model-free analyses showed a heterogeneity LOD (HLOD) of 2.01 (alpha = 0.41) and maximum NPL of 2.56 (p = 0.0027), respectively, when all subjects with GTCS were designated to be affected. Combined analyses of all 11 families showed an HLOD of 4.04 (alpha = 0.51) and maximum NPL score of 4.20 (p = 0.000065). Fine mapping of the locus defined an interval of 4.45Mb. These findings identify a novel locus for GTCS on 10q25-q26 and support the idea that distinct loci underlie distinct seizure types within an epilepsy syndrome such as JME.

Duke Scholars

Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

September 2005

Volume

58

Issue

3

Start / End Page

449 / 458

Location

United States

Related Subject Headings

  • Pedigree
  • Neurology & Neurosurgery
  • Middle Aged
  • Male
  • Lod Score
  • Humans
  • Haplotypes
  • Genetic Predisposition to Disease
  • Female
  • Family Health
 

Citation

APA
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ICMJE
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Puranam, R. S., Jain, S., Kleindienst, A. M., Saxena, S., Kim, M.-K., Kelly Changizi, B., … McNamara, J. O. (2005). A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26. Ann Neurol, 58(3), 449–458. https://doi.org/10.1002/ana.20598
Puranam, Ram S., Satish Jain, Amber M. Kleindienst, Shilpa Saxena, Myeong-Kyu Kim, Barbara Kelly Changizi, M. V. Padma, et al. “A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26.Ann Neurol 58, no. 3 (September 2005): 449–58. https://doi.org/10.1002/ana.20598.
Puranam RS, Jain S, Kleindienst AM, Saxena S, Kim M-K, Kelly Changizi B, et al. A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26. Ann Neurol. 2005 Sep;58(3):449–58.
Puranam, Ram S., et al. “A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26.Ann Neurol, vol. 58, no. 3, Sept. 2005, pp. 449–58. Pubmed, doi:10.1002/ana.20598.
Puranam RS, Jain S, Kleindienst AM, Saxena S, Kim M-K, Kelly Changizi B, Padma MV, Andrews I, Elston RC, Tiwari HK, McNamara JO. A locus for generalized tonic-clonic seizure susceptibility maps to chromosome 10q25-q26. Ann Neurol. 2005 Sep;58(3):449–458.
Journal cover image

Published In

Ann Neurol

DOI

ISSN

0364-5134

Publication Date

September 2005

Volume

58

Issue

3

Start / End Page

449 / 458

Location

United States

Related Subject Headings

  • Pedigree
  • Neurology & Neurosurgery
  • Middle Aged
  • Male
  • Lod Score
  • Humans
  • Haplotypes
  • Genetic Predisposition to Disease
  • Female
  • Family Health