Publications:

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Voltage-Gated Sodium Channel Dysfunctions in Neurological Disorders.

Life (Basel, Switzerland)

Barbieri, Raffaella R; Nizzari, Mario M; Zanardi, Ilaria I; Pusch, Michael M; Gavazzo, Paola P

Publication Date: 2023-05-16

Variant appearance in text: SCN1A: I1498M

PubMed Link: 37240836

Variant Present in the following documents:

• Main text
• life-13-01191.pdf

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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: Nav1.1: I1498M

PubMed Link: 35696452

Variant Present in the following documents:

• Main text
• awac210.pdf

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Gene variant effects across sodium channelopathies predict function and guide precision therapy.

Brain : A Journal Of Neurology

Brunklaus, Andreas A; Feng, Tony T; Brünger, Tobias T; Perez-Palma, Eduardo E; Heyne, Henrike H; Matthews, Emma E; Semsarian, Christopher C; Symonds, Joseph D JD; Zuberi, Sameer M SM; Lal, Dennis D; Schorge, Stephanie S

Publication Date: 2022-01-17

Variant appearance in text: SCN1A: I1498M

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.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: Ile1498Met

PubMed Link: 35002916

Variant Present in the following documents:

• Main text
• fneur-12-743726.pdf

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Late sodium current blocker GS967 inhibits persistent currents induced by familial hemiplegic migraine type 3 mutations of the SCN1A gene.

The Journal Of Headache And Pain

Barbieri, R R; Bertelli, S S; Pusch, M M; Gavazzo, P P

Publication Date: 2019-11-15

Variant appearance in text: SCN1A: I1498M

PubMed Link: 31730442

Variant Present in the following documents:

• Main text
• 10194_2019_Article_1056.pdf

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Early-onset familial hemiplegic migraine due to a novel SCN1A mutation.

Cephalalgia : An International Journal Of Headache

Fan, Chunxiang C; Wolking, Stefan S; Lehmann-Horn, Frank F; Hedrich, Ulrike Bs UB; Freilinger, Tobias T; Lerche, Holger H; Borck, Guntram G; Kubisch, Christian C; Jurkat-Rott, Karin K

Publication Date: 2016-11

Variant appearance in text: SCN1A: I1498M

PubMed Link: 26763045

Variant Present in the following documents:

• Main text
• 10.1177_0333102415608360.pdf

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Genetic studies of Polish migraine patients: screening for causative mutations in four migraine-associated genes.

Human Genomics

Domitrz, Izabela I; Kosiorek, Michalina M; Żekanowski, Cezary C; Kamińska, Anna A

Publication Date: 2016-01-08

Variant appearance in text: SCN1A: I1498M

PubMed Link: 26747084

Variant Present in the following documents:

• Main text

View BVdb publication page

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