Literature DB >> 2918897

Benign familial neonatal convulsions linked to genetic markers on chromosome 20.

M Leppert1, V E Anderson, T Quattlebaum, D Stauffer, P O'Connell, Y Nakamura, J M Lalouel, R White.   

Abstract

Recurrent seizures, commonly known as epilepsies, occur in 1.7% of the general population by age 40. The factors that initiate or underlie seizures are not well understood, but trauma, infectious disease and genetics have been implicated. An understanding of the molecular basis of seizures would shed light on the basic mechanisms of neuronal homeostasis and allow new therapeutic strategies to be explored. Here, we report the mapping of an epilepsy gene to a specific chromosomal region, on the basis of cosegregation of two closely-linked DNA markers with a form of epilepsy known as benign familial neonatal convulsions (BFNC2, 12120 in ref. 3). The linked markers confirm the genetic basis and autosomal dominant inheritance of this trait, and localize the gene causing BFNC in this family to the long arm of chromosome 20. This regional placement is the first step towards the isolation of a gene involved in neuronal activity in the human brain.

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Year:  1989        PMID: 2918897     DOI: 10.1038/337647a0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  42 in total

1.  Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33.

Authors:  B Moulard; M Guipponi; D Chaigne; D Mouthon; C Buresi; A Malafosse
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025

Review 2.  Genetics of childhood epilepsy.

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Journal:  Arch Dis Child       Date:  2000-02       Impact factor: 3.791

Review 3.  Ion channel genes and human neurological disease: recent progress, prospects, and challenges.

Authors:  E C Cooper; L Y Jan
Journal:  Proc Natl Acad Sci U S A       Date:  1999-04-27       Impact factor: 11.205

Review 4.  Unraveling monogenic channelopathies and their implications for complex polygenic disease.

Authors:  J Jay Gargus
Journal:  Am J Hum Genet       Date:  2003-03-07       Impact factor: 11.025

5.  A genetic study of the human low-voltage electroencephalogram.

Authors:  A Anokhin; O Steinlein; C Fischer; Y Mao; P Vogt; E Schalt; F Vogel
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

6.  [Altered cerebral excitability and spreading depression. Causes for the comorbidity of epilepsy and migraine?].

Authors:  T Leniger; H C Diener; A Hufnagel
Journal:  Nervenarzt       Date:  2003-06-18       Impact factor: 1.214

Review 7.  Genes and epilepsy.

Authors:  R M Gardiner
Journal:  J Med Genet       Date:  1990-09       Impact factor: 6.318

8.  Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20.

Authors:  A Malafosse; M Leboyer; O Dulac; Y Navelet; P Plouin; C Beck; H Laklou; G Mouchnino; P Grandscene; L Vallee
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

9.  Localization of a gene for partial epilepsy to chromosome 10q.

Authors:  R Ottman; N Risch; W A Hauser; T A Pedley; J H Lee; C Barker-Cummings; A Lustenberger; K J Nagle; K S Lee; M L Scheuer
Journal:  Nat Genet       Date:  1995-05       Impact factor: 38.330

10.  Benign familial neonatal convulsions: confirmation of genetic heterogeneity and further evidence for a second locus on chromosome 8q.

Authors:  O Steinlein; V Schuster; C Fischer; M Häussler
Journal:  Hum Genet       Date:  1995-04       Impact factor: 4.132

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