Publications:

Gabra2 is a genetic modifier of Dravet syndrome in mice.

Mammalian Genome : Official Journal Of The International Mammalian Genome Society

Hawkins, Nicole A NA; Nomura, Toshihiro T; Duarte, Samantha S; Barse, Levi L; Williams, Robert W RW; Homanics, Gregg E GE; Mulligan, Megan K MK; Contractor, Anis A; Kearney, Jennifer A JA

Publication Date: 2021-10

Variant appearance in text: SCN1A: N52A

PubMed Link: 34086081

Variant Present in the following documents:

• Main text
• 335_2021_Article_9877.pdf

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A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

The Journal Of General Physiology

Thiffault, Isabelle I; Speca, David J DJ; Austin, Daniel C DC; Cobb, Melanie M MM; Eum, Kenneth S KS; Safina, Nicole P NP; Grote, Lauren L; Farrow, Emily G EG; Miller, Neil N; Soden, Sarah S; Kingsmore, Stephen F SF; Trimmer, James S JS; Saunders, Carol J CJ; Sack, Jon T JT

Publication Date: 2015-11

Variant appearance in text: SCN1: N52A

PubMed Link: 26503721

Variant Present in the following documents:

• Main text

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