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GTR Home > Conditions/Phenotypes > Seizures, benign familial infantile, 3

Seizures, benign familial infantile, 3

Synonyms
CONVULSIONS, BENIGN FAMILIAL INFANTILE, 3; Familial neonatal seizures
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Benign familial neonatal-infantile seizures is an autosomal dominant disorder in which afebrile seizures occur in clusters during the first year of life, without neurologic sequelae (Shevell et al., 1986). For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (601764). [from OMIM]

Available tests

44 tests are in the database for this condition.

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Clinical tests (44 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BFIC3, BFIS3, BFNIS, DEE11, EA9, EIEE11, HBA, HBSCI, HBSCII, NAC2, Na(v)1.2, Nav1.2, SCN2A1, SCN2A2, SCN2A
    Summary: sodium voltage-gated channel alpha subunit 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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