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Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene.

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Title: Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene.
Authors: Matricardi, Sara (AUTHOR), Bonanni, Paolo (AUTHOR), Iapadre, Giulia (AUTHOR), Elia, Maurizio (AUTHOR), Cesaroni, Elisabetta (AUTHOR), Danieli, Alberto (AUTHOR), Negrin, Susanna (AUTHOR), Zagaroli, Luca (AUTHOR), Operto, Francesca Felicia (AUTHOR), Carotenuto, Marco (AUTHOR), Pisani, Francesco (AUTHOR), Turco, Emanuela Claudia (AUTHOR), Orsini, Alessandro (AUTHOR), Bonuccelli, Alice (AUTHOR), Savasta, Salvatore (AUTHOR), Concolino, Daniela (AUTHOR), Di Cara, Giuseppe (AUTHOR), Striano, Pasquale (AUTHOR), Verrotti, Alberto (AUTHOR)
Source: European Journal of Neurology. Jan2022, Vol. 29 Issue 1, p19-25. 7p.
Subjects: Epilepsy, Genetic variation, Partial epilepsy, Syndromes, People with epilepsy, Quality of life
Abstract: Background and purpose: 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 study aims to analyse the electroclinical phenotype, treatment options, and long‐term outcomes of epilepsy in PTHS. Methods: A multicentre observational cohort study was performed, and the electroclinical data of PTHS individuals affected by epileptic seizures were retrospectively reviewed and analysed. Results: The series includes 21 patients (11 female) with a median age at seizure onset of 2 years (range = 0.5–8). The median time of follow‐up was 7.9 years (range = 2–27). Both generalized and focal epilepsies were present at the same prevalence (42.8%), whereas a minority of patients presented developmental and epileptic encephalopathies (14.4%). At the long‐term follow‐up, 42.8% achieved seizure freedom, whereas 42.8% developed drug‐resistant epilepsy (DRE). The age at seizure onset was found to be an independent predictor for seizure outcome; in this regard, patients having seizure onset after the age of 2 years were more prone to achieve seizure freedom (odds ratio = 0.04, 95% confidence interval = 0.003–0.53; p = 0.01). During evolution, seizures tended to settle down, and even in patients with DRE, seizures tended to persist at a lower frequency and appeared to be more easily manageable over time. Conclusions: This study provides new insight into the natural history of epilepsy in PTHS. Better characterization of epileptic phenotype and prompt tailored treatment improve overall management and quality of life. [ABSTRACT FROM AUTHOR]
Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
Database: Psychology and Behavioral Sciences Collection
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  Data: Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene.
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  Data: <searchLink fieldCode="JN" term="%22European+Journal+of+Neurology%22">European Journal of Neurology</searchLink>. Jan2022, Vol. 29 Issue 1, p19-25. 7p.
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  Data: <searchLink fieldCode="DE" term="%22Epilepsy%22">Epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Genetic+variation%22">Genetic variation</searchLink><br /><searchLink fieldCode="DE" term="%22Partial+epilepsy%22">Partial epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Syndromes%22">Syndromes</searchLink><br /><searchLink fieldCode="DE" term="%22People+with+epilepsy%22">People with epilepsy</searchLink><br /><searchLink fieldCode="DE" term="%22Quality+of+life%22">Quality of life</searchLink>
– Name: Abstract
  Label: Abstract
  Group: Ab
  Data: Background and purpose: 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 study aims to analyse the electroclinical phenotype, treatment options, and long‐term outcomes of epilepsy in PTHS. Methods: A multicentre observational cohort study was performed, and the electroclinical data of PTHS individuals affected by epileptic seizures were retrospectively reviewed and analysed. Results: The series includes 21 patients (11 female) with a median age at seizure onset of 2 years (range = 0.5–8). The median time of follow‐up was 7.9 years (range = 2–27). Both generalized and focal epilepsies were present at the same prevalence (42.8%), whereas a minority of patients presented developmental and epileptic encephalopathies (14.4%). At the long‐term follow‐up, 42.8% achieved seizure freedom, whereas 42.8% developed drug‐resistant epilepsy (DRE). The age at seizure onset was found to be an independent predictor for seizure outcome; in this regard, patients having seizure onset after the age of 2 years were more prone to achieve seizure freedom (odds ratio = 0.04, 95% confidence interval = 0.003–0.53; p = 0.01). During evolution, seizures tended to settle down, and even in patients with DRE, seizures tended to persist at a lower frequency and appeared to be more easily manageable over time. Conclusions: This study provides new insight into the natural history of epilepsy in PTHS. Better characterization of epileptic phenotype and prompt tailored treatment improve overall management and quality of life. [ABSTRACT FROM AUTHOR]
– Name: AbstractSuppliedCopyright
  Label:
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  Data: <i>Copyright of European Journal of Neurology is the property of Wiley-Blackwell and its content may not be copied or emailed to multiple sites without the copyright holder's express written permission. Additionally, content may not be used with any artificial intelligence tools or machine learning technologies. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract.</i> (Copyright applies to all Abstracts.)
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