KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review.
KCNQ2
neonatal epilepsy
pyridoxal 5 phosphate
pyridoxine
pyridoxine-dependent epilepsy (PDE)
pyridoxine-responsive epilepsy
vitamin B6
Journal
Frontiers in neurology
ISSN: 1664-2295
Titre abrégé: Front Neurol
Pays: Switzerland
ID NLM: 101546899
Informations de publication
Date de publication:
2022
2022
Historique:
received:
30
11
2021
accepted:
28
02
2022
entrez:
11
4
2022
pubmed:
12
4
2022
medline:
12
4
2022
Statut:
epublish
Résumé
Potassium Voltage-Gated Channel Subfamily Q Member 2 (KCNQ2) gene has been initially associated with "Benign familial neonatal epilepsy" (BFNE). Amounting evidence arising by next-generation sequencing techniques have led to the definition of new phenotypes, such as neonatal epileptic encephalopathy (NEE), expanding the spectrum of KCNQ2-related epilepsies. Pyridoxine (PN) dependent epilepsies (PDE) are a heterogeneous group of autosomal recessive disorders associated with neonatal-onset seizures responsive to treatment with vitamin B6 (VitB6). Few cases of neonatal seizures due to KCNQ2 pathogenic variants have been reported as successfully responding to VitB6. We reported two cases of KCNQ2-related neonatal epilepsies involving a 5-year-old male with a paternally inherited heterozygous mutation (
Identifiants
pubmed: 35401395
doi: 10.3389/fneur.2022.826225
pmc: PMC8992372
doi:
Types de publication
Case Reports
Langues
eng
Pagination
826225Informations de copyright
Copyright © 2022 Amore, Butera, Spoto, Valentini, Saia, Salpietro, Calì, Di Rosa and Nicotera.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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