Search results for "Early myoclonic encephalopathy"
showing 2 items of 2 documents
Benign and severe early-life seizures: a round in the first year of life
2018
Abstract Background At the onset, differentiation between abnormal non-epileptic movements, and epileptic seizures presenting in early life is difficult as is clinical diagnosis and prognostic evaluation of the various seizure disorders presenting at this age. Seizures starting in the first year of life including the neonatal period might have a favorable course, such as in infants presenting with benign familial neonatal epilepsy, febrile seizures simplex or acute symptomatic seizures. However, in some cases, the onset of seizures at birth or in the first months of life have a dramatic evolution with severe cerebral impairment. Seizure disorders starting in early life include the “epilepti…
Nonketotic hyperglycinemia and epilepsy
2015
Nonketotic hyperglycinemia (NKH) is an autosomal recessive inborn error in the glycine degradation pathway resulting in severe neurological impairment with intractable seizures and brain damage in the majority of the affected patients. Depending on the age of onset and on the outcome of the disease, severe and attenuated forms of NKH may be discriminated. During neonatal period, patients may present with early myoclonic encephalopathy; in the course of the disease, the picture of seizures changes, and multiple forms of seizures may occur. In patients with severe NKH, seizures remain persistent and resistant to anticonvulsant treatment. Variant NKH, caused by mutations resulting in a deficie…