Publications:

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies.

Neurology. Genetics

Bennett, Caitlin A CA; Petrovski, Slavé S; Oliver, Karen L KL; Berkovic, Samuel F SF

Publication Date: 2017-08

Variant appearance in text: SCN1A: S248F

PubMed Link: 28717674

Variant Present in the following documents:

• supp_3.4.e163_Table_e-1.xlsx, sheet 1

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Altered Channel Conductance States and Gating of GABAA Receptors by a Pore Mutation Linked to Dravet Syndrome.

Eneuro

Hernandez, Ciria C CC; Kong, Weijing W; Hu, Ningning N; Zhang, Yujia Y; Shen, Wangzhen W; Jackson, Laurel L; Liu, Xiaoyan X; Jiang, Yuwu Y; Macdonald, Robert L RL

Publication Date: 2017

Variant appearance in text: SCN1A: S248F

PubMed Link: 28197552

Variant Present in the following documents:

• Main text
• ENEURO.0251-16.2017.pdf

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Genetics and epilepsy.

Dialogues In Clinical Neuroscience

Steinlein, Ortrud K OK

Publication Date: 2008

Variant appearance in text: SCN1A: S248F

PubMed Link: 18472482

Variant Present in the following documents:

• Main text
• DialoguesClinNeurosci-10-29.pdf

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