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ESCAYG , Andrew

Last name: ESCAYG

First name: Andrew

May 2000 (v1)

Journal article

Metadata-only

Coding and Noncoding Variation of the Human Calcium-Channel β4-Subunit Gene CACNB4 in Patients with Idiopathic Generalized Epilepsy and Episodic Ataxia

Escayg, Andrew de Waard, Michel Lee, David

Inactivation of the subunit of the calcium channel in the mouse neurological mutant b4 lethargic results in a complexneurological disorder that includes absence epilepsy and ataxia. To determine the role of the calcium-channel b4-subunit gene CACNB4 on chromosome 2q22-23 in related human disorders, we screened for mutations in smallpedigrees...

Uploaded on: December 3, 2022
May 2019 (v1)

Journal article

Metadata-only

A two-hit story: Seizures and genetic mutation interaction sets phenotype severity in SCN1A epilepsies

Salgueiro-Pereira, Ana Rita Duprat, Fabrice Pousinha, Paula

SCN1A (NaV1.1 sodium channel) mutations cause Dravet syndrome (DS) and GEFS+ (which is in general milder), and are risk factors in other epilepsies. Phenotypic variability limits precision medicine in epilepsy, and it is important to identify factors that set phenotype severity and their mechanisms. It is not yet clear whether SCN1A mutations...

Uploaded on: December 4, 2022