Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.
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DOI: 10.1111/ene.15104
Abstract: BACKGROUND Pitt-Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder caused by deletions/variants in the TCF4 gene. Seizures may be present in up to half of the patients, leading to a more severe disease burden. This… read more here.
Keywords: hopkins syndrome; pitt hopkins; long term; variants tcf4 ... See more keywords