Publications:

Calcium and activity-dependent signaling in the developing cerebral cortex.

Development (Cambridge, England)

Arjun McKinney, Arpana A; Petrova, Ralitsa R; Panagiotakos, Georgia G

Publication Date: 2022-09-01

Variant appearance in text: SCN1A: E1587K

PubMed Link: 36102617

Variant Present in the following documents:

• develop-149-198853-s1.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: SCN1A: E1587K

PubMed Link: 35037686

Variant Present in the following documents:

• awac006_Supplementary_Data.pdf

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Voltage Gated Sodium Channel Genes in Epilepsy: Mutations, Functional Studies, and Treatment Dimensions.

Frontiers In Neurology

Ademuwagun, Ibitayo Abigail IA; Rotimi, Solomon Oladapo SO; Syrbe, Steffen S; Ajamma, Yvonne Ukamaka YU; Adebiyi, Ezekiel E

Publication Date: 2021

Variant appearance in text: SCN1A: E1587K

PubMed Link: 33841294

Variant Present in the following documents:

• Main text
• fneur-12-600050.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: SCN1A: E1587K

PubMed Link: 32581296

Variant Present in the following documents:

• Main text
• 41598_2020_67215_MOESM1_ESM.pdf
• 41598_2020_Article_67215.pdf

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The somatic POLE P286R mutation defines a unique subclass of colorectal cancer featuring hypermutation, representing a potential genomic biomarker for immunotherapy.

Oncotarget

Ahn, Sung-Min SM; Ansari, Adnan Ahmad AA; Kim, Jihun J; Kim, Deokhoon D; Chun, Sung-Min SM; Kim, Jiyun J; Kim, Tae Won TW; Park, Inja I; Yu, Chang-Sik CS; Jang, Se Jin SJ

Publication Date: 2016-10-18

Variant appearance in text: SCN1A: E1587K

PubMed Link: 27612425

Variant Present in the following documents:

• oncotarget-07-68638-s008.xlsx, sheet 1

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