Benign convulsions in infancy

Gross, Sheldon G.; Schubert, Warren; Silka, Mike

doi:10.1016/s0022-3476(80)80594-4

Cited by 2 publications

(2 citation statements)

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“…Long-term neurodevelopmental outcome was normal in most individuals. Three investigators have reported one individual to be mentally subnormal, but scant details were provided [Carton, 1978;Gross et al, 1980;Herranz and Arce, 19791. Another individual was stated to be mildly learning-disabled [Giacoia, 19821.…”

Section: Discussionmentioning

confidence: 99%

“…In 1964, Rett and Teubel reported the first family with a disorder presently referred to as "benign familial neonatal seizures." Since then 15 additional families have been described [Bjere and Corelius, 1968;Carton, 1978;Giacoia, 1982;Goutikres, 1977;Gross et al, 1980;Herranz and Arce, 1979;Kaplan and Lacey, 1983;Pettit and Fenichel, 1980;Quattlebaum, 1979;Rose and Lombroso, 1970;Tibbles, 19801. Thus, this disorder is commoner than realized and is probably still underrecognized.…”

Section: Introductionmentioning

confidence: 99%

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Familial neonatal and infantile seizures: An autosomal‐dominant disorder

Zonana

Silvey

Strimling³

1984

Am. J. Med. Genet.

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Familial neonatal seizures are an important and probably underrecognized disorder. A family with six affected individuals in three generations was evaluated and their clinical characteristics were compared with those of 15 families previously reported in the literature. An analysis of the 116 affected individuals uncovered a typical clinical picture of onset of seizures by 2 to 8 days of life in an otherwise healthy appearing infant, and cessation of seizures by 1 to 6 months. Results of diagnostic evaluations were normal, and the pathogenesis of the disorder is still unclear. Long-term neurodevelopmental outcome was normal except for an increased rate (11%) of subsequent seizures in childhood or as an adult. The disorder was inherited as an autosomal-dominant trait with a high degree of penetrance.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Familial neonatal and infantile seizures: An autosomal‐dominant disorder

Zonana

Silvey

Strimling³

1984

Am. J. Med. Genet.

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Benign familial neonatal convulsions linked to genetic markers on chromosome 20

Leppert

Anderson

Quattlebaum

et al. 1989

Nature

330

125

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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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Benign convulsions in infancy

Cited by 2 publications

References 1 publication

Familial neonatal and infantile seizures: An autosomal‐dominant disorder

Familial neonatal and infantile seizures: An autosomal‐dominant disorder

Benign familial neonatal convulsions linked to genetic markers on chromosome 20

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