A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
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| Title: | A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype. |
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| Authors: | Veltra D; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'St. Sophia's' Children's Hospital, Athens, Greece., Kosma K; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'St. Sophia's' Children's Hospital, Athens, Greece., Papavasiliou A; Department of Pediatric Neurology, Iaso Children's Hospital, Marousi, Greece., Tilemis FN; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'St. Sophia's' Children's Hospital, Athens, Greece.; Research University Institute for the Study of Genetic and Malignant Disease of Childhood, 'St. Sophia's' Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'St. Sophia's' Children's Hospital, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, School of Medicine, National & Kapodistrian University of Athens, 'St. Sophia's' Children's Hospital, Athens, Greece.; Research University Institute for the Study of Genetic and Malignant Disease of Childhood, 'St. Sophia's' Children's Hospital, Athens, Greece. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Dec; Vol. 188 (12), pp. 3563-3566. Date of Electronic Publication: 2022 Sep 22. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62971 |
