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AVANZINI G.

Last name: AVANZINI G.

2006 (v1)

Publication

Metadata-only

Effects in neocortical neurons of mutations of the Nav1.2 Na+ channel causing benign familial neonatal-infantile seizures

Scalmani P. Rusconi R. Armatura E.

Mutations of voltage-gated Na+ channels are the most common cause of familial epilepsy. Benign familial neonatal-infantile seizures (BFNIS) is an epileptic trait of the early infancy, and it is the only well characterized epileptic syndrome caused exclusively by mutations of Na v1.2 Na+ channels, but no functional studies of BFNIS mutations...

Uploaded on: April 14, 2023
1995 (v1)

Publication

Metadata-only

Mapping of genes predisposing to idiopathic generalized epilepsy

Zara F. Blanchi A. Avanzini G.

Idiopathic generalized epilepsy (IGE) is characterized by recurring generalized seizures in the absence of detectable brain lesions and/or metabolic abnormalities. Twin and family studies suggest that genetic factors play a key part in IGE. A multilocus model appears to best fit the observed inheritance patterns. Mapping of IGE-related genes...

Uploaded on: April 14, 2023