Early infantile epileptic encephalopathy

A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.

Abnormal myelination

Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.


Total: 1

                       


(per page)
PMID (PMCID)
24120652
(4303471)
 MALE Child
Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy.
Vanderver A, Simons C, Schmidt JL, Pearl PL, Bloom M, Lavenstein B, Miller D, Grimmond SM, Taft RJ.
Pediatr Neurol. 2014;50(1):112-4.
A child with a severe early infantile epileptic encephalopathy and abnormal myelination underwent whole exome sequencing.