Familial infantile myoclonic epilepsy (FIME) is a rare autosomal recessive idiopathic epilepsy. Idiopathic epilepsies are a group of disorders characterized by recurrent seizures in the absence of detectable brain lesions or metabolic abnormalities. Recently, mutations in TBC1D24, an ARF6-interacting protein, have been described as the cause of FIME. The main recognized function of ARF6 in the nervous system is the regulation of dendritic branching, spine formation, and axonal extension.
Category
Nervous system disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
08 Diseases of the nervous system
Epilepsy or seizures
8A61 Genetic or presumed genetic syndromes primarily expressed as epilepsy
H02212 Familial infantile myoclonic epilepsy
Falace A, Filipello F, La Padula V, Vanni N, Madia F, De Pietri Tonelli D, de Falco FA, Striano P, Dagna Bricarelli F, Minetti C, Benfenati F, Fassio A, Zara F
Title
TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy.
