A Significant and Treatable Cause of Epileptic Encephalopathy: GRIN2D Mutation

CDKL5 Encephalopathy: A Rare Cause of Infantile Epileptic Encephalopathy.

Recessive twinkle mutations cause severe epileptic encephalopathy.

The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy. The latter clinical phenoty...

Severe Neonatal Epileptic Encephalopathy and KCNQ2 Mutation: Neuropathological Substrate?

BACKGROUND Neonatal convulsions are clinical manifestations in a heterogeneous group of disorders with different etiology and outcome. They are attributed to several genetic causes. METHODS We describe a patient with intractable neonatal seizures who died from respiratory compromise during a status epilepticus. RESULTS This case report provides electroencephalogram (EEG), MRI, genetic analy...

Epileptic Encephalopathy

Epileptic encephalopathies are conditions in which epileptic activity itself is postulated to contribute to severe cognitive and behavioural impairments above and beyond what might be expected from the underlying pathology alone. The term has been used in two ways: (1) as a generic classification term for epilepsies with severe cognitive and be-havioural outcomes and (2) as a pathophysiological...

A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male.

Neurologic regression in a previously healthy child may be caused by metabolic or neurodegenerative disorders, many of which have no definitive treatment. We report a case of a previously healthy 8-year-old boy who presented with a month-long history of waxing and waning encephalopathy and acute regression, followed by seizures. Evaluation for a metabolic disorder revealed methylmalonic acidemi...