Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Pyridoxine-Dependent Epilepsy in Newborn - A Rare and Challenging Diagnosis.
Pal M et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
Feasibility of newborn screening for pyridoxine-dependent epilepsy.
Pauly K et al.
Molecular Genetics and Metabolism, 2025
Analysis of clinical features and genetic variants in Chinese children with pyridoxine-dependent epilepsy: a case series study.
Yu X et al.
Frontiers in Neurology, 2025
Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies.
Andjelkovic M et al.
Molecular Diagnosis & Therapy, 2024
Case report: Early (molecular) diagnosis is the clue: report on ALDH7A1 deficiency in newborns.
Lipiński P et al.
Frontiers in Genetics, 2024
Importance of targeted next-generation sequencing in pediatric patients with developmental epileptic encephalopathy.
Bariş S et al.
Revista Da Associacao Medica Brasileira (1992), 2023
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M et al.
Frontiers in Genetics, 2023
An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ et al.
Nature Communications, 2022
Prenatal genetic testing in 19 fetuses with corpus callosum abnormality.
She Q et al.
Journal of Clinical Laboratory Analysis, 2021
Artificial intelligence enables comprehensive genome interpretation and nomination of candidate diagnoses for rare genetic diseases.
De La Vega FM et al.
Genome Medicine, 2021
Pathogenic Mutations and Putative Phenotype-Affecting Variants in Polish Myofibrillar Myopathy Patients.
Potulska-Chromik A et al.
Journal of Clinical Medicine, 2021
Diagnostic and Clinical Utility of Clinical Exome Sequencing in Children With Moderate and Severe Global Developmental Delay / Intellectual Disability.
Stojanovic JR et al.
Journal of Child Neurology, 2020
A Randomized, Controlled Trial of the Analytic and Diagnostic Performance of Singleton and Trio, Rapid Genome and Exome Sequencing in Ill Infants.
Kingsmore SF et al.
American Journal of Human Genetics, 2019
Possible precision medicine implications from genetic testing using combined detection of sequence and intragenic copy number variants in a large cohort with childhood epilepsy.
Truty R et al.
Epilepsia Open, 2019
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin CR et al.
Journal of Inherited Metabolic Disease, 2019
First cases of pyridoxine-dependent epilepsy in Bulgaria: novel mutation in the ALDH7A1 gene.
Tincheva S et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015