epileptic encephalopathy, early infantile, type 5

epileptic encephalopathy, early infantile, type 5

A disorder (OMIM:613477) characterised by seizures associated with hypsarrhythmia, profound mental retardation, lack of visual attention and speech development, and spastic quadriplegia.

Molecular pathology
Caused by defects of SPTAN1, which encodes non-erythrocytic alpha spectrin that serves as an essential scaffold protein, stabilising plasma membranes, and organises intracellular organelles.