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What (who) is KCNQ2 developmental and epileptic encephalopathy - definition
KCNQ2 developmental and epileptic encephalopathy
DISEASE
Draft:KCNQ2 developmental and epileptic encephalopathy
KCNQ2 encephalopathy typically presents with tonic seizures from the first week of life. The seizures can be frequent and often difficult to treat.
Ethylmalonic encephalopathy
HUMAN DISEASE
Encephalopathy, petechiae, and ethylmalonic aciduria; EPEMA syndrome
Ethylmalonic encephalopathy (EE) is a rare autosomal recessive inborn error of metabolism. Patients affected with EE are typically identified shortly after birth, with symptoms including diarrhea, petechiae and seizures.
Wernicke encephalopathy
PRESENCE OF NEUROLOGICAL SYMPTOMS CAUSED BY BIOCHEMICAL LESIONS OF THE CENTRAL NERVOUS SYSTEM AFTER EXHAUSTION OF B-VITAMIN RESERVES,
Wernickes Encephalopathy; Wernicke’s encephalopathy; Wernicke's encephalopathy
Wernicke encephalopathy (WE), also Wernicke's encephalopathy, or wet brain is the presence of neurological symptoms caused by biochemical lesions of the central nervous system after exhaustion of B-vitamin reserves, in particular thiamine (vitamin B1). The condition is part of a larger group of thiamine deficiency disorders that includes beriberi, in all its forms, and alcoholic Korsakoff syndrome.
