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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease west syndrome
Comorbidity C0014544|epilepsy
Sentences 5
PubMedID- 22419660 [2009] (suffering from epilepsy with infantile spasms) and lysy et al.
PubMedID- 24452264 Neonatal estradiol stimulation prevents epilepsy in arx model of x-linked infantile spasms syndrome.
PubMedID- 26000322 He depended on tube feeding and suffered from epilepsy with hypsarrhythmia and multifocal epileptic activity in the eeg at the age of 1 and 3 years.
PubMedID- 22459639 The efficacy of surgery for the treatment of epilepsy in patients with west syndrome secondary to tuberous sclerosis is unclear.
PubMedID- 22242004 In contrast, the two families with dolk mutations originally described by kranz et al [9] showed a severe congenital multisystem phenotype including a variable presentation of cardiac failure, severe muscular hypotonia, and ichthyosis, with epilepsy due to hypsarrhythmia, microcephaly and visual impairment, leading to death within 6 months after birth.

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