https://ipilimumabinhibitor.co....m/the-period-2-exami
Pathogenic variants in the GTPase or middle domain were found in three individuals, consistent with a DEE phenotype characterized by epileptic spasms, tonic seizures, and severe to profound intellectual disability. Atypical phenotypes, characterized by milder cognitive impairment and focal epilepsy, were observed in the remaining three patients. From a genetic standpoint, two patients exhibiting atypical presentations possessed variations within the GTPase domain; however, the
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