Research map: Epilepsy with fever-sensitivity in patients with ATP6V0C pathogenic variants

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Papers in this map

  1. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology · Sue M. Richards · 2015 · 33500 citations · Cited by this paper
  2. A Clinical Nomogram for Predicting Drug-Resistant Epilepsy and Its Long-Term Persistence in Children: A Cohort Study · 2026 · Related
  3. ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions · Sameer M. Zuberi · 2022 · 917 citations · Cited by this paper
  4. Electroclinical and behavioral outcomes of add-on ethosuximide in children with developmental and epileptic encephalopathy with spike-wave activation in sleep (D/EE-SWAS): A prospective observational study · 2026 · Related
  5. The genetics of Dravet syndrome · Carla Marini · 2011 · 278 citations · Cited by this paper
  6. Delirium in critically ill patients treated with levetiracetam or brivaracetam: a comparative study · 2026 · Related
  7. Dravet syndrome and its mimics: Beyond SCN 1A · Dora Steel · 2017 · 184 citations · Cited by this paper
  8. Healthcare resource utilization and persistence in children and adults with Dravet syndrome receiving fenfluramine: a retrospective analysis using United States claims data · 2026 · Related
  9. Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities · Carla Marini · 2007 · 178 citations · Cited by this paper
  10. Unlocking seizure freedom: A European Delphi panel study on the clinical, humanistic, and economic value of seizure control in epilepsy · 2026 · Related
  11. Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications · Katrine M. Johannesen · 2021 · 153 citations · Cited by this paper
  12. The electroencephalographic patterns in the acute phase of febrile infection related epilepsy syndrome in children · 2026 · Related
  13. Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations · Valentina Cetica · 2017 · 136 citations · Cited by this paper
  14. A sinus in time frontal lobe seizures and cranial osteoma · 2026 · Related
  15. ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy · Kari A. Mattison · 2022 · 34 citations · Cited by this paper
  16. Phenotypic and genotypic characteristics of children STXBP1-related disorders · 2026 · Related
  17. Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy · Laura C. Bott · 2021 · 33 citations · Cited by this paper
  18. Genotype–phenotype correlations and clinical spectrum of ALG13-related developmental epileptic encephalopathy · 2026 · Related
  19. Genetic etiologies with a large NGS panel in a monocentric cohort of 1000 patients with pediatric onset epilepsies · Giulia Barcia · 2025 · 13 citations · Cited by this paper
  20. Novel de novo mutation substantiates ATP6V0C as a gene causing epilepsy with intellectual disability · Chupong Ittiwut · 2020 · 9 citations · Cited by this paper
  21. Risk factors for secondary epilepsy following febrile seizures in children: A meta-analysis · Jing Zhang · 2024 · 6 citations · Cited by this paper
  22. Variants in ATP6V0C are associated with Dravet‐like developmental and epileptic encephalopathy · Marlene Rong · 2025 · 5 citations · Cited by this paper
  23. Molecular Screening of SCN1A ‐Related Seizures in Children With Febrile Seizures: Diagnostic Yield and Variant Distribution · Jia Wang · 2025 · 4 citations · Cited by this paper

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