P

M

PEZZELLA , Marianna

Last name: PEZZELLA

First name: Marianna

August 2013 (v1)

Journal article

Metadata-only

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

Partemi, Sara Cestèle, Sandrine Pezzella, Marianna

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, idiopathic epilepsy, and increased risk of sudden death. Genetic study showed a previously unreported heterozygous point mutation (c.246T>C) in the KCNH2...

Uploaded on: December 3, 2022
August 2013 (v1)

Journal article

Metadata-only

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

Partemi, Sara Cestèle, Sandrine Pezzella, Marianna

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, idiopathic epilepsy, and increased risk of sudden death. Genetic study showed a previously unreported heterozygous point mutation (c.246T>C) in the KCNH2...

Uploaded on: October 11, 2023
August 2013 (v1)

Journal article

Metadata-only

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

Cestèle, Sandrine Partemi, Sara Cestele, Sandrine

International audience

Uploaded on: December 4, 2022