TCF4, transcription factor 4, 6925

N. diseases: 378; N. variants: 111
Disease: Seizures ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036572
Disease: Seizures
Seizures 		0.410 GeneticVariation phenotype BEFREE Our review of previously reported cases with TCF4 mutations and deletions showed that all patients with Pitt-Hopkins syndrome reported to date have severe psychomotor retardation, the onsets of seizures and hyperventilation episodes are limited to the first decade in most reported patients with Pitt-Hopkins syndrome, hyperventilation episodes are more common than seizures and are seen in the oldest patients, and individuals with missense TCF4 mutations are more likely to develop seizures. 19938247 2009
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype CTD_human Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. 18728071 2008
CUI: C0036572
Disease: Seizures
Seizures 		0.410 Biomarker phenotype HPO