High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile (Q34331927)

1 August 2017

title

High-resolution molecular genomic autopsy reveals complex sudden unexpected death in epilepsy risk profile (English)

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1 August 2017

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Feng Zhang

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Jeffrey L Noebels

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James R Lupski

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1 August 2017

Ankita Patel

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1 August 2017

Tara L Klassen

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1 August 2017

Valerie C Bomben

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1 August 2017

Janice Drabek

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1 August 2017

Tim T Chen

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1 August 2017

Wenli Gu

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1 August 2017

Kevin Chapman

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1 August 2017

A M Goldman

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1 August 2017

publication date

24 December 2013

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1 August 2017

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1 August 2017

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1 August 2017

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1 August 2017

page(s)

e6-12

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Sudden unexpected death in a mouse model of Dravet syndrome

1 August 2017

cites work

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Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

6 July 2018

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De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP

6 July 2018

1 reference

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Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

6 July 2018

1 reference

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Genetics of sudden death: focus on inherited channelopathies.

6 July 2018

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Borderline Dravet syndrome: a useful diagnostic category?

6 July 2018

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Kv1.1 potassium channel deficiency reveals brain-driven cardiac dysfunction as a candidate mechanism for sudden unexplained death in epilepsy.

6 July 2018

1 reference

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Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.

6 July 2018

1 reference

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Sudden unexpected death in epilepsy: risk factors and potential pathomechanisms

6 July 2018

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Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy

6 July 2018

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The creatine transporter gene paralogous at 16p11.2 is expressed in human brain

6 July 2018

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Heterogeneous gene expression and functional activity of ryanodine receptors in resistance and conduit pulmonary as well as mesenteric artery smooth muscle cells

6 July 2018

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Ion channels and epilepsy

6 July 2018

1 reference

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Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

6 July 2018

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Deletion of the ryanodine receptor type 3 (RyR3) impairs forms of synaptic plasticity and spatial learning

6 July 2018

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Electrical and autonomic cardiac function in patients with Dravet syndrome

6 July 2018

1 reference

The spectrum of SCN1A-related infantile epileptic encephalopathies

21 January 2018

1 reference

A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation

21 January 2018

1 reference

Truncation of the Shaker-like voltage-gated potassium channel, Kv1.1, causes megencephaly

21 January 2018

1 reference

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

21 January 2018

1 reference

Long-Term Mortality in Childhood-Onset Epilepsy

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24372310

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Transcompartmental reversal of single fibre hyperexcitability in juxtaparanodal Kv1.1-deficient vagus nerve axons by activation of nodal KCNQ channels

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24372310

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1111/EPI.12489

1 reference

1 August 2017

1 reference

1 August 2017

1 reference