D

DAZZO E.

Last name: DAZZO E.

2018 (v1)

Publication

Metadata-only

Mutations in MICAL-1cause autosomal-dominant lateral temporal epilepsy

Dazzo E. Rehberg K. Michelucci R.

Objective: Autosomal-dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy characterized by auditory symptoms. Two genes, LGI1 and RELN, encoding secreted proteins, are implicated in the etiology of ADLTE, but half of the affected families remain genetically unsolved, and the underlying molecular mechanisms are yet to be...

Uploaded on: April 14, 2023
2017 (v1)

Publication

Metadata-only

The clinical phenotype of autosomal dominant lateral temporal lobe epilepsy related to reelin mutations

Michelucci R. Pulitano P. Di Bonaventura C.

Objective To describe the clinical phenotype of 7 families with Autosomal Dominant Lateral Temporal Lobe Epilepsy (ADLTE) related to Reelin (RELN) mutations comparing the data with those observed in 12 LGI1-mutated pedigrees belonging to our series. Methods Out of 40 Italian families with ADLTE, collected by epileptologists participating in a...

Uploaded on: April 14, 2023