V

VACCA D.

Last name: VACCA D.

2002 (v1)

Publication

Metadata-only

Lack of SCN1A mutations in familial febrile seizures

Malacarne M. Madia F. Gennaro E.

Purpose: Mutations in the voltage-gated sodium channel subunit gene SCN1A have been associated with febrile seizures (FSs) in autosomal dominant generalized epilepsy with febrile seizures plus (GEFS +) families and severe myoclonic epilepsy of infancy. The present study assessed the role of SCN1A in familial typical FSs. Methods: FS families...

Uploaded on: April 14, 2023
2001 (v1)

Publication

Metadata-only

Benign familial infantile convulsions: Mapping of a novel locus on chromosome 2q24 and evidence for genetic heterogeneity

Malacarne M. Gennaro E. Madia F.

In 1997, a locus for benign familial infantile convulsions (BFIC) was mapped to chromosome 19q. Further data suggested that this locus is not involved in all families with BFIC. In the present report, we studied eight Italian families and mapped a novel BFIC locus within a 0.7-cM interval of chromosome 2q24, between markers D2S399 and D2S2330....

Uploaded on: April 14, 2023