Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects.

Autor: Kurekci F; Department of Pediatrics, Division of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye. Electronic address: fulya.kurekci@istanbul.edu.tr., Akif Kilic M; Department of Pediatrics, Division of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye., Akbas S; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye., Avci R; Department of Pediatrics, Division of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye., Oney C; Department of Pediatrics, Division of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye., Dilruba Aslanger A; Department of Medical Genetics, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye., Maras Genc H; Department of Pediatrics, Division of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye., Aydinli N; Department of Pediatrics, Division of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye., Pembegul Yildiz E; Department of Pediatrics, Division of Pediatric Neurology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkiye.

Publikováno v: Epilepsy & behavior : E&B [Epilepsy Behav] 2024 Sep; Vol. 158, pp. 109930. Date of Electronic Publication: 2024 Jul 03.

A rare cause of arterial hypertension in a child with developmental delay: Answers.

Autor: Pehlivanoglu C; Pediatric Nephrology Department, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkey. cemile111323@gmail.com., Maras Genc H; Pediatric Neurology Department, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkey., Kalın S; Pediatric Radiology Department, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkey.

Publikováno v: Pediatric nephrology (Berlin, Germany) [Pediatr Nephrol] 2022 Feb; Vol. 37 (2), pp. 333-336. Date of Electronic Publication: 2021 Oct 19.

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Towards a Treatment for Leukodystrophy Using Cell-Based Interception and Precision Medicine.

Autor: Coulombe, Benoit^1,2 (AUTHOR) benoit.coulombe@ircm.qc.ca, Chapleau, Alexandra^3,4,5 (AUTHOR) alexandra.chapleau@mail.mcgill.ca, Macintosh, Julia^3,4 (AUTHOR) julia.macintosh@mail.mcgill.ca, Durcan, Thomas M.⁵ (AUTHOR), Poitras, Christian¹ (AUTHOR) yena.moursli@ircm.qc.ca, Moursli, Yena A.¹ (AUTHOR) maxime.pinard@ircm.qc.ca, Faubert, Denis⁶ (AUTHOR) denis.faubert@ircm.qc.ca, Pinard, Maxime¹ (AUTHOR), Bernard, Geneviève^3,4,7 (AUTHOR) genevieve.bernard@mcgill.ca

Publikováno v: Biomolecules (2218-273X). Jul2024, Vol. 14 Issue 7, p857. 11p.

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