Publications:

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SCN1A channelopathies: Navigating from genotype to neural circuit dysfunction.

Frontiers In Neurology

Bryson, Alexander A; Petrou, Steven S

Publication Date: 2023

Variant appearance in text: SCN1A: L1670W

PubMed Link: 37139072

Variant Present in the following documents:

• fneur-14-1173460.pdf

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Gastrointestinal and Autonomic Symptoms-How to Improve the Diagnostic Process in Panayiotopoulos Syndrome?

Children (Basel, Switzerland)

Zontek, Aneta A; Paprocka, Justyna J

Publication Date: 2022-05-31

Variant appearance in text: SCN1A: L1670W

PubMed Link: 35740751

Variant Present in the following documents:

• children-09-00814.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: SCN1A: L1670W

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: Nav1.1: L1670W

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf
• awac006.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: 5009T>G

PubMed Link: 35002916

Variant Present in the following documents:

• Main text

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Transfer of SCN1A to the brain of adolescent mouse model of Dravet syndrome improves epileptic, motor, and behavioral manifestations.

Molecular Therapy. Nucleic Acids

Mora-Jimenez, Lucia L; Valencia, Miguel M; Sanchez-Carpintero, Rocio R; Tønnesen, Jan J; Fadila, Saja S; Rubinstein, Moran M; Gonzalez-Aparicio, Manuela M; Bunuales, Maria M; Fernandez-Pierola, Eva E; Nicolas, Maria Jesus MJ; Puerta, Elena E; Miguelez, Cristina C; Minguez, Paula Gimenez PG; Lumbreras, Sara S; Gonzalez-Aseguinolaza, Gloria G; Ricobaraza, Ana A; Hernandez-Alcoceba, Ruben R

Publication Date: 2021-09-03

Variant appearance in text: SCN1A: L1670W

PubMed Link: 34589280

Variant Present in the following documents:

• mmc2.pdf
• main.pdf

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Initiation of migraine-related cortical spreading depolarization by hyperactivity of GABAergic neurons and NaV1.1 channels.

The Journal Of Clinical Investigation

Chever, Oana O; Zerimech, Sarah S; Scalmani, Paolo P; Lemaire, Louisiane L; Pizzamiglio, Lara L; Loucif, Alexandre A; Ayrault, Marion M; Krupa, Martin M; Desroches, Mathieu M; Duprat, Fabrice F; Léna, Isabelle I; Cestèle, Sandrine S; Mantegazza, Massimo M

Publication Date: 2021-11-01

Variant appearance in text: Nav1.1: L1670W

PubMed Link: 34491914

Variant Present in the following documents:

• jci-131-142203.pdf

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Modeling NaV1.1/SCN1A sodium channel mutations in a microcircuit with realistic ion concentration dynamics suggests differential GABAergic mechanisms leading to hyperexcitability in epilepsy and hemiplegic migraine.

Plos Computational Biology

Lemaire, Louisiane L; Desroches, Mathieu M; Krupa, Martin M; Pizzamiglio, Lara L; Scalmani, Paolo P; Mantegazza, Massimo M

Publication Date: 2021-07

Variant appearance in text: SCN1A: L1670W

PubMed Link: 34314446

Variant Present in the following documents:

• pcbi.1009239.pdf

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Deciphering in silico the Role of Mutated Na 1.1 Sodium Channels in Enhancing Trigeminal Nociception in Familial Hemiplegic Migraine Type 3.

Frontiers In Cellular Neuroscience

Suleimanova, Alina A; Talanov, Max M; van den Maagdenberg, Arn M J M AMJM; Giniatullin, Rashid R

Publication Date: 2021

Variant appearance in text: Nav1.1: L1670W

PubMed Link: 34135733

Variant Present in the following documents:

• Main text
• fncel-15-644047.pdf
• Data_Sheet_1.pdf

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A Study among the Genotype, Functional Alternations, and Phenotype of 9 SCN1A Mutations in Epilepsy Patients.

Scientific Reports

Kluckova, Daniela D; Kolnikova, Miriam M; Lacinova, Lubica L; Jurkovicova-Tarabova, Bohumila B; Foltan, Tomas T; Demko, Viktor V; Kadasi, Ludevit L; Ficek, Andrej A; Soltysova, Andrea A

Publication Date: 2020-06-24

Variant appearance in text: Nav1.1: L1670W

PubMed Link: 32581296

Variant Present in the following documents:

• 41598_2020_Article_67215.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: Nav1.1: L1670W

PubMed Link: 31730442

Variant Present in the following documents:

• 10194_2019_Article_1056.pdf

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Advances in genetics of migraine.

The Journal Of Headache And Pain

Sutherland, Heidi G HG; Albury, Cassie L CL; Griffiths, Lyn R LR

Publication Date: 2019-06-21

Variant appearance in text: Nav1.1: L1670W

PubMed Link: 31226929

Variant Present in the following documents:

• 10194_2019_Article_1017.pdf

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Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine.

Frontiers In Molecular Neuroscience

Dhifallah, Sandra S; Lancaster, Eric E; Merrill, Shana S; Leroudier, Nathalie N; Mantegazza, Massimo M; Cestèle, Sandrine S

Publication Date: 2018

Variant appearance in text: SCN1A: 5009T>G

PubMed Link: 30038559

Variant Present in the following documents:

• Main text
• fnmol-11-00232.pdf

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