Pyridoxine supplementation in PACS2-related encephalopathy: A case report of possible precision therapy
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Neurology,General Medicine
Reference12 articles.
1. A recurrent De Novo PACS2 heterozygous missense variant causes neonatal-onset developmental epileptic encephalopathy, facial dysmorphism, and cerebellar dysgenesis;Olson;Am J Hum Genet,2018
2. Expanding the clinical spectrum associated with PACS2 mutations;Dentici;Clin Genet,2019
3. A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome;Terrone;Seizure,2020
4. Clinical variations of epileptic syndrome associated with PACS2 variant;Mizuno;Brain Dev,2021
5. New case with the recurrent c.635G>A pathogenic variant in the PACS2 gene: expanding the phenotype;Sánchez-Soler;Neurologia,2021
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1. Long-Term Outcome of Neonatal Seizure with PACS2 Mutation: Case Series and Literature Review;Children;2023-03-26
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