Overlap of the Pitt–Hopkins and Lennox–Gastaut syndromes
Sign Up to like & getrecommendations! Published in 2018 at "Acta Neurologica Belgica"
DOI: 10.1007/s13760-018-1045-2
Abstract: Introduction. Pitt–Hopkins syndrome (PTHS) is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures and distinctive facial features. Other features may include constipation, microcephaly, myopia, strabismus, short stature, and minor brain… read more here.
Keywords: epilepsy; pitt hopkins; etiology; case ... See more keywords
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4.
Sign Up to like & getrecommendations! Published in 2017 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2017.08.004
Abstract: Pitt-Hopkins syndrome is a neurodevelopmental disorder characterized by severe intellectual disability and a distinctive facial gestalt. It is caused by haploinsufficiency of the TCF4 gene. The TCF4 protein has different functional domains, with the NLS… read more here.
Keywords: pitt hopkins; molecular syndromology; tcf4; hopkins syndrome ... See more keywords
Epilepsy, electroclinical features, and long-term outcomes in Pitt-Hopkins syndrome due to pathogenic variants in the TCF4 gene.
Sign Up to like & getrecommendations! Published in 2021 at "European journal of neurology"
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
Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient
Sign Up to like & getrecommendations! Published in 2020 at "Genes"
DOI: 10.3390/genes11060596
Abstract: Pitt Hopkins syndrome (PTHS) is a very rare condition and until now, approximately 500 patients were reported worldwide, of which not all are genetically confirmed. Usually, individuals with variants affecting exons 1 to 5 in… read more here.
Keywords: clinical molecular; pitt hopkins; syndrome clinical; hopkins syndrome ... See more keywords