Associated Papers
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
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
Phenotyping of FGF12AV52H mutation in mouse implies a complex FGF12 network.
Huang J et al.
Neurobiology of Disease, 2024
Genetic and phenotypic landscape of pediatric-onset epilepsy in 142 Indian families: Counseling and therapeutic implications.
Majethia P et al.
Clinical Genetics, 2024
Generation of a human iPSC line (ZJSHDPi001-A) from peripheral blood mononuclear cells of a patient with Developmental epileptic encephalopathy-47 carrying FGF12 gene mutation (c.334G > A).
Gao L et al.
Stem Cell Research, 2023
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
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
Trivisano M et al.
Epilepsia, 2020
FGF12p.Gly112Ser variant as a cause of phenytoin/phenobarbital responsive epilepsy.
Paprocka J et al.
Clinical Genetics, 2019
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