Publications:

Predicting functional effects of ion channel variants using new phenotypic machine learning methods.

Plos Computational Biology

Boßelmann, Christian Malte CM; Hedrich, Ulrike B S UBS; Lerche, Holger H; Pfeifer, Nico N

Publication Date: 2023-03-06

Variant appearance in text: SCN5A: G1481V

PubMed Link: 36877742

Variant Present in the following documents:

• pcbi.1010959.s004.pdf

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When the Gates Swing Open Only: Arrhythmia Mutations That Target the Fast Inactivation Gate of Nav1.5.

Cells

Gamal El-Din, Tamer M TM

Publication Date: 2022-11-22

Variant appearance in text: LQT3: G1481V

PubMed Link: 36496974

Variant Present in the following documents:

• cells-11-03714.pdf

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Druggability of Voltage-Gated Sodium Channels-Exploring Old and New Drug Receptor Sites.

Frontiers In Pharmacology

Wisedchaisri, Goragot G; Gamal El-Din, Tamer M TM

Publication Date: 2022

Variant appearance in text: Nav1.5: G1481V

PubMed Link: 35370700

Variant Present in the following documents:

• fphar-13-858348.pdf

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Novel G1481V and Q1491H SCN5A Mutations Linked to Long QT Syndrome Destabilize the Nav1.5 Inactivation State.

Cjc Open

Plumereau, Quentin Q; Theriault, Olivier O; Pouliot, Valérie V; Moreau, Adrien A; Morel, Elodie E; Fressart, Véronique V; Denjoy, Isabelle I; Delinière, Antoine A; Bessière, Francis F; Chevalier, Philippe P; Gamal El-Din, Tamer M TM; Chahine, Mohamed M

Publication Date: 2021-03

Variant appearance in text: Nav1.5: G1481V

PubMed Link: 33778442

Variant Present in the following documents:

• Main text
• main.pdf

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