ArticleNeurology. Genetics2021
Migrating Focal Seizures and Myoclonic Status in
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Article in Neurology. Genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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10citing papers in PubMed, 1 pooled it
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 11 citations in OpenAlex.
- Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.Frontiers in neurology · 2021Pooled it
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- The cerebellum in epilepsy.Epilepsia · 2025Review
- Identification of ARV1 Gene Mutations in Three Pediatric Cases of Developmental and Epileptic Encephalopathy.Cureus · 2025Article
- ARV1 Gene: A Novel Cause of Autosomal Recessive Cerebellar Ataxia with Elevated Alpha Fetoprotein.Cerebellum (London, England) · 2024Article
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- Severe Epilepsy and Movement Disorder May Be Early Symptoms ofNeurology. Genetics · 2022Article
- Dilated cardiomyopathy is a part of the ARV1-associated phenotype: a case report.Journal of medical case reports · 2022Article
- Arv1; a "Mover and Shaker" of Subcellular Lipids.Contact (Thousand Oaks (Ventura County, Calif.))Review
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Authors and funding
10 authors at 4 institutions in 1 country.
Francesca DarraChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
Tommaso Lo BarcoChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
Roberta OpriChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
Elena ParriniChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
Claudia BianchiniChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
Elena FioriniChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
Alessandro SimonatiChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
Bernardo Dalla BernardinaChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
Gaetano CantalupoChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
Renzo GuerriniChild Neuropsychiatry Unit(F.D.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Child Neuropsychiatry Unit(T.L.B.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; PhD Program in Clinical and Experimental Medicine (T.L.B.), University of Modena and Reggio Emilia; Pediatric Unit (R.O.), Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics University of Verona; Pediatric Neurology (E.P.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Pediatric Neurology (C.B.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence; Child Neuropsychiatry Unit (E.F.), Azienda Ospedaliera Universitaria Integrata di Verona; Neurology (Child Neurology and Neuropathology) (A.S.), Department of Neuroscience, Biomedicine and Movement, University of Verona; CREP (Research Center for Pediatric Epilepsies) (B.D.B.), Azienda Ospedaliera Universitaria Integrata di Verona; and Pediatric Neurology (R.G.), Neurogenetics and Neurobiology Unit and Laboratories, Meyer Children's Hospital, University of Florence, Italy.
University of Modena and Reggio Emilia · ITUniversity of Florence · ITUniversity of Verona · ITAzienda Ospedaliera Universitaria Integrata Verona · IT
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectiveTo report longitudinal clinical, EEG, and MRI findings in 2 sisters carrying compound heterozygous
methodsClinical course description, video-EEG polygraphic recordings, brain MRI, skin and muscle biopsies, whole-exome sequencing (WES), and brain neuropathology.
resultsSince their first months of life, both girls exhibited severe axial hypotonia, visual inattention, dyskinetic movements, severe developmental delay, and slow background EEG activity. Intractable nonmotor seizures started in both at the eighth month of life, exhibiting the electroclinical characteristics of epilepsy of infancy with migrating focal seizures (EIMFS). In the second year of life, continuous epileptiform EEG activity of extremely high amplitude appeared in association with myoclonic status, leading to severely impaired alertness and responsiveness. Repeated brain MRI revealed progressive atrophic changes and severe hypomyelination. WES identified a compound heterozygous in the
conclusionsThis report confirms that biallelic
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