Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death

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Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death

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Langue: en

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Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

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International audience. There has been increased interest in a possible association between epilepsy channelopathies and cardiac arrhythmias, such as long QT syndrome (LQTS). We report a kindred that features LQTS, ...

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Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death

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Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

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Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death

Consulter en ligne

Suggestions

Du même auteur

Loss-of-function KCNH2 mutation in a family with long QT syndrome, epilepsy, and sudden death.

Rescuable folding defective NaV1.1 (SCN1A) mutants in epilepsy: Properties, occurrence, and novel rescuing strategy with peptides targeted to the endoplasmic reticulum

Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study

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