A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)

Benign Familial Neonatal Convulsions (BFNC) is an epileptic disorder with an autosomal dominant mode of transmission. It has been shown that about 80% of BFNC pedigrees are linked to a genetic defect on chromosome 20q13.3. A candidate gene for the epilepsies, the gene coding for the alpha4 subunit o...

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Veröffentlicht in:	Neurobiology of disease 1994-11, Vol.1 (1-2), p.95-99
Hauptverfasser:	Beck, C, Moulard, B, Steinlein, O, Guipponi, M, Vallee, L, Montpied, P, Baldy-Moulnier, M, Malafosse, A
Format:	Artikel
Sprache:	eng
Schlagworte:	DNA Probes DNA, Single-Stranded - analysis Genetic Linkage - genetics Humans Mutation - genetics Pedigree Polymerase Chain Reaction Receptors, Nicotinic - genetics Seizures - genetics
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