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EPILEPSY PHENOTYPES ACROSS THE DIFFERENT AGE-RANGES IN IQSEC2-RELATED ENCEPHALOPATHY: AN ITALIAN MULTICENTRE RETROSPECTIVE COHORT STUDY

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Abstract

Epilepsy is a hallmark of IQSEC2-related encephalopathy within a phenotypic variability ranging between early onset epileptic and developmental encephalopathy and X-linked intellectual disability with epilepsy.

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