Developmental and epilepsy spectrum of Poirier–Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature-Reference-Cited by-同舟云学术

Developmental and epilepsy spectrum of Poirier–Bienvenu neurodevelopmental syndrome: Description of a new case study and review of the available literature

Published:2021-12 Issue: Volume:93 Page:133-139
ISSN:1059-1311
Container-title:Seizure
language:en
Short-container-title:Seizure

Author:

Bonanni Paolo,Baggio Martina,Duma Gian Marco,Negrin Susanna,Danieli Alberto,Giorda Roberto

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology,General Medicine

Reference11 articles.

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2. I.E. Scheffer, J. Liao, Deciphering the concepts behind “epileptic encephalopathy” and “developmental and epileptic encephalopathy”, Eur J Paediatr Neurol, 2020, https://doi.org/10.1016/j.ejpn.2019.12.023.

3. ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology;Scheffer;EpilepsiaEpilepsia,2017

4. CSNK2B splice site mutations in patients cause intellectual disability with or without myoclonic epilepsy;Poirier;Hum Mutat,2017

5. Truncating mutation in CSNK2B and myoclonic epilepsy;Sakaguchi;Hum Mutat,2017

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1. Genetic analysis and literature review of a Poirier–Bienvenu neurodevelopmental syndrome family line caused by a de novo frameshift variant in CSNK2B;Molecular Genetics & Genomic Medicine;2023-11-30

2. Refining of the electroclinical phenotype in familial and sporadic cases of CSNK2B-related Neurodevelopmental Syndrome;Epilepsy & Behavior;2023-10

3. Casein kinase 2 affects epilepsy by regulating ion channels: a potential mechanism;CNS & Neurological Disorders - Drug Targets;2023-06-22

4. Case report: Two cases of Poirier-Bienvenu neurodevelopmental syndrome and review of literature;Frontiers in Pediatrics;2023-03-20

5. Predictive functional, statistical and structural analysis of CSNK2A1 and CSNK2B variants linked to neurodevelopmental diseases;Frontiers in Molecular Biosciences;2022-10-13