Publications:

Gastrointestinal and Autonomic Symptoms-How to Improve the Diagnostic Process in Panayiotopoulos Syndrome?

Children (Basel, Switzerland)

Zontek, Aneta A; Paprocka, Justyna J

Publication Date: 2022-05-31

Variant appearance in text: SCN1A: L1624Q

PubMed Link: 35740751

Variant Present in the following documents:

• children-09-00814.pdf

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The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function.

Frontiers In Pharmacology

Jones, Laura B LB; Peters, Colin H CH; Rosch, Richard E RE; Owers, Maxine M; Hughes, Elaine E; Pal, Deb K DK; Ruben, Peter C PC

Publication Date: 2021

Variant appearance in text: SCN1A: L1624Q

PubMed Link: 34925043

Variant Present in the following documents:

• Main text
• fphar-12-788192.pdf

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Incorporating epilepsy genetics into clinical practice: a 360°evaluation.

Npj Genomic Medicine

Oates, Stephanie S; Tang, Shan S; Rosch, Richard R; Lear, Rosalie R; Hughes, Elaine F EF; Williams, Ruth E RE; Larsen, Line H G LHG; Hao, Qin Q; Dahl, Hans Atli HA; Møller, Rikke S RS; Pal, Deb K DK

Publication Date: 2018

Variant appearance in text: SCN1A: 4871T>A

PubMed Link: 29760947

Variant Present in the following documents:

• Main text
• 41525_2018_Article_52.pdf

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