Lethal NARS2-Related Disorder Associated With Rapidly Progressive Intractable Epilepsy and Global Brain Atrophy
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,Developmental Neuroscience,Neurology,Pediatrics, Perinatology, and Child Health
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1. A retrospective study of the yield of next‐generation sequencing in the diagnosis of developmental and epileptic encephalopathies and epileptic encephalopathies in 0–12 years aged children at a single tertiary care hospital in South India;Epileptic Disorders;2024-06-24
2. Genotype and Phenotype Characteristics of 58 Cases of Mitochondrial Epilepsy with Nuclear DNA Mutations in Children;Neurological Sciences;2024-06-04
3. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review;BMC Pediatrics;2024-02-03
4. Expanding phenotype heterogeneity of NARS2 by presenting subdural hematoma and parenchymal hemorrhage;Journal of Clinical Laboratory Analysis;2023-11
5. Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review;2023-09-19
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