Associated Papers
Characterization of an induced pluripotent stem cell line (SDCHi010-A) from a young patient with epilepsy.
Li Q et al.
Stem Cell Research, 2026
Genetic Diversity in Early Infantile Epileptic Encephalopathy: A Three-Year Cohort Study.
Torbati PN et al.
Pediatric Neurology, 2026
Ictal Asystole in a Patient With DEE due to an FGF12 Pathogenic Variant: A Reminder to Monitor Cardiac Function.
Piotrowski J et al.
Clinical Genetics, 2025
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
Broadening the phenotype associated with pathogenic variants in the FGF12 gene: From developmental and epileptic encephalopathy to drug-responsive epilepsy with favorable cognitive outcome.
Pierret C et al.
Epilepsia, 2025
Voltage-gated sodium channels in genetic epilepsy: up and down of excitability.
Rusina E et al.
Journal of Neurochemistry, 2024
Phenotyping of FGF12AV52H mutation in mouse implies a complex FGF12 network.
Huang J et al.
Neurobiology of Disease, 2024
Early-Onset Epileptic Encephalopathy Responsive to Phenytoin: A Diagnostic Clue for Fibroblast Growth Factor 12 Mutation.
Saleem NM et al.
Cureus, 2024
Yield of exome sequencing in patients with developmental and epileptic encephalopathies and inconclusive targeted gene panel.
Sedlackova L et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
Genetic testing in children enrolled in epilepsy surgery program. A real-life study.
Straka B et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2023
Biallelic structural variations within FGF12 detected by long-read sequencing in epilepsy.
Ohori S et al.
Life Science Alliance, 2023
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
Modulating effects of FGF12 variants on NaV1.2 and NaV1.6 being associated with developmental and epileptic encephalopathy and Autism spectrum disorder: A case series.
Seiffert S et al.
Ebiomedicine, 2022
Effective treatments for FGF12-related early-onset epileptic encephalopathies patients.
Tian Q et al.
Brain & Development, 2021
Early onset epilepsy and sudden unexpected death in epilepsy with cardiac arrhythmia in mice carrying the early infantile epileptic encephalopathy 47 gain-of-function FHF1(FGF12) missense mutation.
Velíšková J et al.
Epilepsia, 2021
Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.
Spagnoli C et al.
International Journal of Molecular Sciences, 2021
Diagnostic Yield of Whole Genome Sequencing After Nondiagnostic Exome Sequencing or Gene Panel in Developmental and Epileptic Encephalopathies.
Palmer EE et al.
Neurology, 2021
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
Pathogenic variants identified by whole-exome sequencing in 43 patients with epilepsy.
Zhang L et al.
Human Genomics, 2020
Clinical Application of Whole Exome Sequencing to Identify Rare but Remediable Neurologic Disorders.
Kim MJ et al.
Journal of Clinical Medicine, 2020
Childhood-onset epileptic encephalopathy due to FGF12 exon 1-4 tandem duplication.
Verheyen S et al.
Neurology. Genetics, 2020
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M et al.
Epilepsia, 2020
Epilepsy phenotype in individuals with chromosomal duplication encompassing FGF12.
Willemsen MH et al.
Epilepsia Open, 2020
Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects.
Edwards JJ et al.
Jacc. Basic to Translational Science, 2020
The expanding spectrum of movement disorders in genetic epilepsies.
Papandreou A et al.
Developmental Medicine and Child Neurology, 2020
Tumorous congenital calcinosis cutis associated with early childhood epileptic encephalopathy with a pathogenic FGF12 gene variant.
Marín-Hernández E et al.
Boletin Medico Del Hospital Infantil De Mexico, 2020
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndrome.
Oda Y et al.
Journal of Human Genetics, 2019
FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
Paprocka J et al.
Clinical Genetics, 2019
The Epilepsy Genetics Initiative: Systematic reanalysis of diagnostic exomes increases yield.
Unknown Author
Epilepsia, 2019
Evaluating the pathogenic potential of genes with de novo variants in epileptic encephalopathies.
He N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Diagnostic Yield and Treatment Impact of Targeted Exome Sequencing in Early-Onset Epilepsy.
Demos M et al.
Frontiers in Neurology, 2019
Rare Variants in 48 Genes Account for 42% of Cases of Epilepsy With or Without Neurodevelopmental Delay in 246 Pediatric Patients.
Fernández-Marmiesse A et al.
Frontiers in Neuroscience, 2019
Systematic reanalysis of genomic data improves quality of variant interpretation.
Hiatt SM et al.
Clinical Genetics, 2018
Heterogeneity of FHF1 related phenotype: Novel case with early onset severe attacks of apnea, partial mitochondrial respiratory chain complex II deficiency, neonatal onset seizures without neurodegeneration.
Villeneuve N et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2017
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Bowling KM et al.
Genome Medicine, 2017
Phenytoin-responsive epileptic encephalopathy with a tandem duplication involving FGF12.
Shi RM et al.
Neurology. Genetics, 2017
FHF1 (FGF12) epileptic encephalopathy.
Al-Mehmadi S et al.
Neurology. Genetics, 2016
De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.
Guella I et al.
Neurology. Genetics, 2016
Gain-of-function FHF1 mutation causes early-onset epileptic encephalopathy with cerebellar atrophy.
Siekierska A et al.
Neurology, 2016
FGF12: biology and function.
Biadun M et al.
Differentiation; Research in Biological Diversity, 0