[Mode of inheritance of idiopathic generalized non-myoclonic epilepsy in families investigated by studying members with idiopathic epilepsy with tonic-clonic crises on waking. Antioquia, Colombia].
In attempt to identify the possible role of mayor genes, multifactorial inheritance, and cohort effects in the susceptibility to idiopathic epilepsy with generalized tonic clonic seizures of the awakening type (GTCS), complex segregation analysis was performed in 196 nuclear families ascertained through affected with probands with idiopathic epilepsy with GTCS belonging to the Paisa community of Antioquia (Colombia). Models postulating no transmission, single mayor locus (dominant and recessive) only, and multifactorial component only, were rejected. The models postulating no polygenic component to transmission, and no transmission of the major effect were also rejected. Thus far, complex segregation analysis suggested that a major autosomal codominant allele together with a multifactorial component (mixed model) best explains clustering of idiopathic epilepsy with GTCS in families of the Paisa community. The deficit of transmission of heterozygotes (0.17) is compatible with the existence of epistasis acting on a major gene whose frequency was estimated to be 0.0211. Its transmission variance accounts for 81% of the susceptibility to idiopathic epilepsy with GTCS. The complementary variance (19%) is due to polygenic component.
Mora
O
O
Instituto Neurológico de Antioquia, Universidad de Antioquia, Medellín, Colombia.
Jiménez
I
I
Palacio
L G
LG
Jiménez
M
M
Sánchez
J L
JL
Zuluaga
L
L
Uribe
C S
CS
Isaza
R
R
Muñoz
A
A
Arcos-Burgos
M
M
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002648:Child; D002675:Child, Preschool; D003105:Colombia; D004569:Electroencephalography; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D005796:Genes / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008957:Models, Genetic; D014851:Wakefulness
Modo de herencia de epilepsia idiopática generalizada no mioclónica en familias pesquisadas a través de probandos afectados de epilepsia idiopática con crisis tonicoclónicas del despertar en Antioquia, Colombia.