Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene-Reference-Cited by-同舟云学术

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

Published:2021-10-07 Issue:1 Volume:29 Page:19-25
ISSN:1351-5101
Container-title:European Journal of Neurology
language:en
Short-container-title:Eur J Neurol

Author:

Matricardi Sara¹^ORCID,Bonanni Paolo²,Iapadre Giulia³,Elia Maurizio⁴,Cesaroni Elisabetta¹,Danieli Alberto²,Negrin Susanna²,Zagaroli Luca³,Operto Francesca Felicia⁵,Carotenuto Marco⁶,Pisani Francesco⁷,Turco Emanuela Claudia⁷,Orsini Alessandro⁸,Bonuccelli Alice⁸,Savasta Salvatore⁹,Concolino Daniela¹⁰,Di Cara Giuseppe¹¹,Striano Pasquale¹²¹³,Verrotti Alberto¹¹

Affiliation:

1. Child Neurology and Psychiatry Unit "G. Salesi" Children's Hospital, Ospedali Riuniti Ancona Ancona Italy

2. Epilepsy Unit IRCCS Eugenio Medea Scientific Institute Conegliano Italy

3. Department of Paediatrics University of L'Aquila L'Aquila Italy

4. Unit of Neurology and Clinical Neurophysiopathology Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS) Troina Italy

5. Child Neuropsychiatry Unit Department of Medicine, Surgery, and Dentistry University of Salerno Salerno Italy

6. Clinic of Child and Adolescent Neuropsychiatry Department of Mental Health and Physical and Preventive Medicine Luigi Vanvitelli University Caserta Italy

7. Child Neuropsychiatric Unit, Maternal and Child Health Department Parma University Hospital Parma Italy

8. Paediatric Neurology Paediatric Department Santa Chiara's University HospitalAzienda Ospedaliero Universitaria Pisana Pisa Italy

9. Department of Paediatrics Maggiore Hospital ASST Crema Crema Italy

10. Paediatrics Unit Department of Health Sciences Magna Graecia University of Catanzaro Catanzaro Italy

11. Department of Paediatrics University of Perugia Perugia Italy

12. Paediatric Neurology and Muscular Diseases Unit Giannina Gaslini Institute, IRCCS Genoa Italy

13. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy

Publisher

Wiley

Subject

Clinical Neurology,Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/ene.15104

Reference30 articles.

1. A Syndrome of Mental Retardation, Wide Mouth and Intermittent Overbreathing

2. Pitt–Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge

3. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement

4. Mutations in TCF4, Encoding a Class I Basic Helix-Loop-Helix Transcription Factor, Are Responsible for Pitt-Hopkins Syndrome, a Severe Epileptic Encephalopathy Associated with Autonomic Dysfunction

5. Mutational, functional, and expression studies of theTCF4gene in Pitt-Hopkins syndrome

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3. Clinical and genetic characterization of 47 Chinese pediatric patients with Pitt–Hopkins syndrome: a retrospective study;Orphanet Journal of Rare Diseases;2024-02-08

4. Psychiatric risk gene Transcription Factor 4 (TCF4) regulates the density and connectivity of distinct inhibitory interneuron subtypes;Molecular Psychiatry;2023-09-28

5. Unusual Inconsolable Crying: An Insight, Case Report, and Review of the Literature on the Pitt-Hopkins Gastrointestinal Phenotype;Cureus;2023-08-20