Literature DB >> 8048696

Benign infantile epilepsy with autosomal dominant inheritance.

B Echenne1, V Humbertclaude, F Rivier, A Malafosse, R Cheminal.   

Abstract

Benign cryptogenic infantile epilepsy occurred in 6 infants of 3 families, with similar characteristics suggesting a common physiopathology: onset between 3 and 12 months of age, clusters of brief generalized seizures easily controlled by anti-epileptic drugs, normal psychomotor development, usually normal EEG with, rarely, generalized interictal spike-waves, no recurrence after drug discontinuation, the treatment being no longer than 16 months in most cases. Identical histories were found in parents, uncles and aunts, suggesting an autosomal dominant mode of inheritance. This seems to correspond to an original form of early onset, benign infantile epilepsy.

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Year:  1994        PMID: 8048696     DOI: 10.1016/0387-7604(94)90044-2

Source DB:  PubMed          Journal:  Brain Dev        ISSN: 0387-7604            Impact factor:   1.961


  4 in total

1.  Search for alpha4 and alpha7 nicotinic acetylcholine receptor markers in a pedigree of benign familial infantile convulsions (BFIC).

Authors:  M B Rauschemberger; C Vecchi; F J Barrantes
Journal:  Neurochem Res       Date:  2002-11       Impact factor: 3.996

2.  Benign infantile familial convulsions.

Authors:  E Hauser; R Seidl; W Tenner; G Bernert; A Lischka
Journal:  Eur J Pediatr       Date:  1995-06       Impact factor: 3.183

3.  Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16.

Authors:  P Szepetowski; J Rochette; P Berquin; C Piussan; G M Lathrop; A P Monaco
Journal:  Am J Hum Genet       Date:  1997-10       Impact factor: 11.025

4.  Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome.

Authors:  R Caraballo; S Pavek; A Lemainque; M Gastaldi; B Echenne; J Motte; P Genton; R Cersósimo; V Humbertclaude; N Fejerman; A P Monaco; M G Lathrop; J Rochette; P Szepetowski
Journal:  Am J Hum Genet       Date:  2001-02-13       Impact factor: 11.025

  4 in total

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