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BAULAC , S.

Last name: BAULAC

First name: S.

2015 (v1)

Publication

Metadata-only

Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly

Hardies, K. May, P. Djémié, T.

No description

Uploaded on: April 14, 2023
2016 (v1)

Publication

Metadata-only

Evaluation of presumably disease causing SCN1A variants in a cohort of common epilepsy syndromes

Lal, D. Reinthaler, E. M. Dejanovic, B.

Objective: The SCN1A gene, coding for the voltage-gated Na+ channel alpha subunit NaV1.1, is the clinically most relevant epilepsy gene. With the advent of high-throughput next-generation sequencing, clinical laboratories are generating an ever-increasing catalogue of SCN1A variants. Variants are more likely to be classified as pathogenic if...

Uploaded on: April 14, 2023