Seizures, benign familial neonatal, autosomal recessive

Preferred Label : Seizures, benign familial neonatal, autosomal recessive;

Type : Other, mainly phenotypes with suspected mendelian basis;

Alternative titles and symbols : Epilepsy, benign familial neonatal, autosomal recessive; Convulsions, benign familial neonatal, autosomal recessive; Bfns, autosomal recessive;

Description : For a phenotypic description and a discussion of genetic heterogeneity of benign neonatal seizures, see BFNS1 (121200). Schiffmann et al. (1991) described an Iranian Jewish kindred in which 4 children of the same generation in 2 separate sibships with complex parental consanguinity had neonatal seizures. Linkage analysis excluded assignment to the BFNS1 locus on chromosome 20q. *FIELD* RF 1. Schiffmann, R.; Shapira, Y.; Ryan, S. G.: An autosomal recessive form of benign familial neonatal seizures. Clin. Genet. 40: 467-470, 1991. *FIELD* CS Autosomal recessive;

Inheritance : Autosomal recessive;

Prefixed ID : 269720;

Details

Origin ID

269720;

UMLS CUI

C1849250;

Automatic exact mappings (from CISMeF team)
- Benign familial neonatal epilepsy [ORDO Disease]
- epilepsy, benign neonatal, autosomal recessive [MeSH Supplementary Concept]
Broader ORDO disease(s)
- Benign familial neonatal epilepsy [ORDO Disease]
DO Cross reference
- benign neonatal seizures [DO Concept]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Bilateral tonic-clonic seizure [HPO term]
- Epilepsy [HPO term]
- Hypertonia [HPO term]
- Normal interictal EEG [HPO term]
Not associated HPO term(s)
- Neurodevelopmental abnormality [HPO term]
ORDO concept(s)
- Benign familial neonatal epilepsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- epilepsy, benign neonatal, autosomal recessive [MeSH Supplementary Concept]
- epilepsy, benign neonatal, autosomal recessive [MeSH concept]

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