Publications:

---

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: F1499L

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

View BVdb publication page

---

Hyperexcitable interneurons trigger cortical spreading depression in an Scn1a migraine model.

The Journal Of Clinical Investigation

Auffenberg, Eva E; Hedrich, Ulrike Bs UB; Barbieri, Raffaella R; Miely, Daniela D; Groschup, Bernhard B; Wuttke, Thomas V TV; Vogel, Niklas N; Lührs, Philipp P; Zanardi, Ilaria I; Bertelli, Sara S; Spielmann, Nadine N; Gailus-Durner, Valerie V; Fuchs, Helmut H; Hrabě de Angelis, Martin M; Pusch, Michael M; Dichgans, Martin M; Lerche, Holger H; Gavazzo, Paola P; Plesnila, Nikolaus N; Freilinger, Tobias T

Publication Date: 2021-11-01

Variant appearance in text: SCN1A: F1499L

PubMed Link: 34546973

Variant Present in the following documents:

• jci-131-142202.pdf

View BVdb publication page

---

Familial Hemiplegic Migraine with an ATP1A4 Mutation: Clinical Spectrum and Carbamazepine Efficacy.

Brain Sciences

Coppola, Giangennaro G; Pastorino, Grazia Maria Giovanna GMG; Vetri, Luigi L; D'Onofrio, Floriana F; Operto, Francesca Felicia FF

Publication Date: 2020-06-15

Variant appearance in text: SCN1A: F1499L

PubMed Link: 32549268

Variant Present in the following documents:

• brainsci-10-00372.pdf

View BVdb publication page

---

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: F1499L

PubMed Link: 31730442

Variant Present in the following documents:

• 10194_2019_Article_1056.pdf

View BVdb publication page

---

Structure-based assessment of disease-related mutations in human voltage-gated sodium channels.

Protein & Cell

Huang, Weiyun W; Liu, Minhao M; Yan, S Frank SF; Yan, Nieng N

Publication Date: 2017-06

Variant appearance in text: Nav1.1: F1499L

PubMed Link: 28150151

Variant Present in the following documents:

• Main text

View BVdb publication page

---

GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: SCN1A: F1499L

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page

---