《英文msh词典》Biotin Responsive Encephalopathy
[入口词] Biotin Responsive Encephalopathy
[主题词] Myoclonic Epilepsies,Progressive
[英文释义] A heterogeneous group of primarily familial disorders characterized by myoclonic seizures,tonic-clonic seizures,ataxia,progressive intellectual deterioration,and neuronal degeneration. These include LAFORA DISEASE; MERRF SYNDROME; NEURONAL CEROID-LIPOFUSCINOSIS; sialidosis (see MUCOLIPIDOSES),and UNVERRICHT-LUNDBORG SYNDROME.