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.

Cerebellar hypoplasia

Underdevelopment of the cerebellum.


合計: 1

                       


（表示件数）
PMID (PMCID)
22709267
 MIXED_SAMPLE
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.
Saitsu H, Kato M, Osaka H, Moriyama N, Horita H, Nishiyama K, Yoneda Y, Kondo Y, Tsurusaki Y, Doi H, Miyake N, Hayasaka K, Matsumoto N.
Epilepsia. 2012;53(8):1441-9.
CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia.