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Infantile GM1 Gangliosidosis with Epilepsy Associated with a Same-Codon GLB1 Variant (c.808T>G/c.808T>C).

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Title: Infantile GM1 Gangliosidosis with Epilepsy Associated with a Same-Codon GLB1 Variant (c.808T>G/c.808T>C).
Authors: Gamirova R; Neurocognitive Research Laboratory, Department of Neurology with Courses in Psychiatry, Clinical Psychology, and Medical Genetics, Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia., Grishagina A; Neurocognitive Research Laboratory, Department of Neurology with Courses in Psychiatry, Clinical Psychology, and Medical Genetics, Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia., Gorobets E; Neurocognitive Research Laboratory, Department of Applied and Experimental Linguistics, Center for Speech Pathology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia., Bargiacchi G; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy., Carotenuto M; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.
Source: Genes [Genes (Basel)] 2026 Jun 12; Vol. 17 (6). Date of Electronic Publication: 2026 Jun 12.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Infantile GM1 Gangliosidosis with Epilepsy Associated with a Same-Codon GLB1 Variant (c.808T>G/c.808T>C).
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  Data: <searchLink fieldCode="AU" term="%22Gamirova+R%22">Gamirova R</searchLink>; Neurocognitive Research Laboratory, Department of Neurology with Courses in Psychiatry, Clinical Psychology, and Medical Genetics, Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia.<br /><searchLink fieldCode="AU" term="%22Grishagina+A%22">Grishagina A</searchLink>; Neurocognitive Research Laboratory, Department of Neurology with Courses in Psychiatry, Clinical Psychology, and Medical Genetics, Institute of Fundamental Medicine and Biology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia.<br /><searchLink fieldCode="AU" term="%22Gorobets+E%22">Gorobets E</searchLink>; Neurocognitive Research Laboratory, Department of Applied and Experimental Linguistics, Center for Speech Pathology, Kazan (Volga Region) Federal University, 18 Kremlevskaya St., Kazan 420008, Russia.<br /><searchLink fieldCode="AU" term="%22Bargiacchi+G%22">Bargiacchi G</searchLink>; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Carotenuto+M%22">Carotenuto M</searchLink>; Clinic of Child and Adolescent Neuropsychiatry, Department of Mental Health, Physical and Preventive Medicine, University of Campania 'Luigi Vanvitelli', 80131 Naples, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 Jun 12; Vol. 17 (6). <i>Date of Electronic Publication: </i>2026 Jun 12.
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        Value: 10.3390/genes17060691
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      – TitleFull: Infantile GM1 Gangliosidosis with Epilepsy Associated with a Same-Codon GLB1 Variant (c.808T>G/c.808T>C).
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              Text: 2026 Jun 12
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