Publications:

Likely Pathogenic Variants of Cav1.3 and Nav1.1 Encoding Genes in Amyotrophic Lateral Sclerosis Could Elucidate the Dysregulated Pain Pathways.

Biomedicines

Nagy, Zsófia Flóra ZF; Sonkodi, Balázs B; Pál, Margit M; Klivényi, Péter P; Széll, Márta M

Publication Date: 2023-03-17

Variant appearance in text: SCN1A: S228P

PubMed Link: 36979911

Variant Present in the following documents:

• Main text
• biomedicines-11-00933.pdf

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Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: SCN1A: 682T>C; Ser228Pro

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Brünger, Tobias T; Feng, Tony T; Fons, Carmen C; Lehikoinen, Anni A; Panagiotakaki, Eleni E; Vintan, Mihaela-Adela MA; Symonds, Joseph J; Andrew, James J; Arzimanoglou, Alexis A; Delima, Sarah S; Gallois, Julie J; Hanrahan, Donncha D; Lesca, Gaetan G; MacLeod, Stewart S; Marjanovic, Dragan D; McTague, Amy A; Nuñez-Enamorado, Noemi N; Perez-Palma, Eduardo E; Scott Perry, M M; Pysden, Karen K; Russ-Hall, Sophie J SJ; Scheffer, Ingrid E IE; Sully, Krystal K; Syrbe, Steffen S; Vaher, Ulvi U; Velayutham, Murugan M; Vogt, Julie J; Weiss, Shelly S; Wirrell, Elaine E; Zuberi, Sameer M SM; Lal, Dennis D; Møller, Rikke S RS; Mantegazza, Massimo M; Cestèle, Sandrine S

Publication Date: 2022-11-21

Variant appearance in text: SCN1A: S228P

PubMed Link: 35696452

Variant Present in the following documents:

• Main text
• awac210.pdf

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SCN1A Mutation-Beyond Dravet Syndrome: A Systematic Review and Narrative Synthesis.

Frontiers In Neurology

Ding, Jiangwei J; Li, Xinxiao X; Tian, Haiyan H; Wang, Lei L; Guo, Baorui B; Wang, Yangyang Y; Li, Wenchao W; Wang, Feng F; Sun, Tao T

Publication Date: 2021

Variant appearance in text: SCN1A: Ser228Pro

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

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De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes.

Journal Of Medical Genetics

Jaber, Dana D; Gitiaux, Cyril C; Blesson, Sophie S; Marguet, Florent F; Buard, David D; Varela Salgado, Maritzaida M; Kaminska, Anna A; Saada, Julien J; Fallet-Bianco, Catherine C; Martinovic, Jelena J; Laquerriere, Annie A; Melki, Judith J

Publication Date: 2021-11

Variant appearance in text: SCN1A: Ser228Pro

PubMed Link: 32928894

Variant Present in the following documents:

• Main text
• jmedgenet-2020-107166.pdf

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