Mutazioni di SCN1A in un caso di epilessia di incerta classificazione con atrofia cerebellare progressiva

We report a child affected by unclassified epilepsy with febrile and afebrile seizures, mental retardation and progressive cerebellar atrophy, who also carried two heterozygous mutations of sodium channel alpha-subunit (SCN1A) gene. The same SCN1A mutations were found in his mother who only presented a febrile convulsion at the age of 9 months. Our data suggest evidence that SCN1A mutations might be responsible, other than epilepsy, also for progressive cerebellar atrophy as reported in models of different channelopathies.