epileptic encephalopathy, early infantile, type 5(redirected from EIEE5)
epileptic encephalopathy, early infantile, type 5A disorder (OMIM:613477) characterised by seizures associated with hypsarrhythmia, profound mental retardation, lack of visual attention and speech development, and spastic quadriplegia.
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.
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