Ask
Search
My library
ORKG

ORKG Ask

Our mission is to organize scholarly knowledge and make it accessible to humans and machines.

About

About ORKG Ask
Report issue
Statistics
Contact

Legal

Terms of use
Data protection (sheet)
Imprint
Accessibility
License

Technical

We
open source
System status
Changelog
Frontend: v1.41.0
Backend: v1.13.4

We use cookies to provide a better user experience.

Data Protection

Spectrum of KV2.1 Dysfunction in KCNB1‐Associated Neurodevelopmental Disorders

Publication date

December 2019

DOI

10.1002/ana.25607

Publisher

Wiley

Journal

Annals of Neurology

Language

English

Abstract

Peer Reviewedhttps://deepblue.lib.umich.edu/bitstream/2027.42/152486/1/ana25607.pdfhttps://deepblue.lib.umich.edu/bitstream/2027.42/152486/2/ana25607_am.pd

Extracted data

Related items

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 10.1212/WNL.0000000000200660

March 2022

peer reviewedBackground: KCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potas...

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

February 2023

International audienceBackground and Objectives KCNH5 encodes the voltage-gated potassium channel EA...

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Smets, K.
Duarri, A.
Deconinck, T.
Ceulemans, B.
Warrenburg, B.P.C. van de
Zuchner, S.
Gonzalez, M.A.
Schule, R.
Synofzik, M.
Aa, N. van der
Jonghe, P. De
Verbeek, D.S.
Baets, J.

January 2015

Contains fulltext : 155287.pdf (publisher's version ) (Open Access)BACKGROUND: Ide...

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

January 2020

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neu...

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.

Hawkins, Nicole A
Misra, Sunita N
Jurado, Manuel
Kang, Seok Kyu
Vierra, Nicholas C
Nguyen, Kimberly
Wren, Lisa
George, Alfred L
Trimmer, James S
Kearney, Jennifer A

January 2021

Developmental and epileptic encephalopathies (DEE) are a group of severe epilepsies that usually pre...

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

January 2020

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neu...

A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures

Veale, Emma L.
Golluscio, Alessia
Grand, Katheryn
Graham, John
Mathie, Alistair

December 2022

Objective: Numerous pathogenic variants in KCNB1, which encodes the voltage-gated potassium channel,...

DataSheet1_A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.PDF

Emma L. Veale (5435486)
Alessia Golluscio (14287232)
Katheryn Grand (9871475)
John M. Graham (12869165)
Alistair Mathie (5435468)

December 2022

Objective: Numerous pathogenic variants in KCNB1, which encodes the voltage-gated potassium channel,...

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5

October 2022

OBJECTIVE: KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the ...

Distinctive Role of KV1.1 Subunits in the Biology and Functions of Low Threshold K+ Channels with Implication for Neurological Disease

Ovsepian, Saak
Le Berre, Marie
Steuber, Volker
O'Leary, Valerie
Leibold, Christian
Dolly, Oliver

January 2017

This document is the Accepted Manuscript version of the following article: Saak V. Ovsepian; Marie L...

The investigation of pathophysiological mechanisms underlying KV7-related epilepsy and neurodevelopmental delay

Zhang, Jiaren

September 2023

Affecting more than 65 million people worldwide, epilepsy is the fourth most common neurological dis...

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

January 2017

Importance Knowing the range of symptoms seen in patients with a missense or loss-of-function varian...

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

January 2022

Background and ObjectivesKCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potas...

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Lehman, Anna
Thouta, Samrat
Mancini, Grazia M S
Naidu, Sakkubai
van Slegtenhorst, Marjon
McWalter, Kirsty
Person, Richard
Mwenifumbo, Jill
Salvarinova, Ramona
CAUSES Study
EPGEN Study
Guella, Ilaria
McKenzie, Marna B
Datta, Anita
Connolly, Mary B
Kalkhoran, Somayeh Mojard
Poburko, Damon
Friedman, Jan M
Farrer, Matthew J
Demos, Michelle
Desai, Sonal
Claydon, Thomas

July 2017

KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely e...

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

Thiffault, Isabelle
Speca, David J
Austin, Daniel C
Cobb, Melanie M
Eum, Kenneth S
Safina, Nicole P
Grote, Lauren
Farrow, Emily G
Miller, Neil
Soden, Sarah
Kingsmore, Stephen F
Trimmer, James S
Saunders, Carol J
Sack, Jon T

November 2015

The epileptic encephalopathies are a group of highly heterogeneous genetic disorders. The majority o...

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 10.1212/WNL.0000000000200660

March 2022

peer reviewedBackground: KCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potas...

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

February 2023

International audienceBackground and Objectives KCNH5 encodes the voltage-gated potassium channel EA...

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Smets, K.
Duarri, A.
Deconinck, T.
Ceulemans, B.
Warrenburg, B.P.C. van de
Zuchner, S.
Gonzalez, M.A.
Schule, R.
Synofzik, M.
Aa, N. van der
Jonghe, P. De
Verbeek, D.S.
Baets, J.

January 2015

Contains fulltext : 155287.pdf (publisher's version ) (Open Access)BACKGROUND: Ide...

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

January 2020

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neu...

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variant.

Hawkins, Nicole A
Misra, Sunita N
Jurado, Manuel
Kang, Seok Kyu
Vierra, Nicholas C
Nguyen, Kimberly
Wren, Lisa
George, Alfred L
Trimmer, James S
Kearney, Jennifer A

January 2021

Developmental and epileptic encephalopathies (DEE) are a group of severe epilepsies that usually pre...

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.

January 2020

Developmental and epileptic encephalopathies (DEE) refer to a heterogeneous group of devastating neu...

A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures

Veale, Emma L.
Golluscio, Alessia
Grand, Katheryn
Graham, John
Mathie, Alistair

December 2022

Objective: Numerous pathogenic variants in KCNB1, which encodes the voltage-gated potassium channel,...

DataSheet1_A KCNB1 gain of function variant causes developmental delay and speech apraxia but not seizures.PDF

Emma L. Veale (5435486)
Alessia Golluscio (14287232)
Katheryn Grand (9871475)
John M. Graham (12869165)
Alistair Mathie (5435468)

December 2022

Objective: Numerous pathogenic variants in KCNB1, which encodes the voltage-gated potassium channel,...

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage Sensing and Pore Domain of KCNH5

October 2022

OBJECTIVE: KCNH5 encodes the voltage-gated potassium channel EAG2/Kv10.2. We aimed to delineate the ...

Distinctive Role of KV1.1 Subunits in the Biology and Functions of Low Threshold K+ Channels with Implication for Neurological Disease

Ovsepian, Saak
Le Berre, Marie
Steuber, Volker
O'Leary, Valerie
Leibold, Christian
Dolly, Oliver

January 2017

This document is the Accepted Manuscript version of the following article: Saak V. Ovsepian; Marie L...

The investigation of pathophysiological mechanisms underlying KV7-related epilepsy and neurodevelopmental delay

Zhang, Jiaren

September 2023

Affecting more than 65 million people worldwide, epilepsy is the fourth most common neurological dis...

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

January 2017

Importance Knowing the range of symptoms seen in patients with a missense or loss-of-function varian...

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Patients With Epilepsy With KCNC2 Pathogenic Variants

January 2022

Background and ObjectivesKCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potas...

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Lehman, Anna
Thouta, Samrat
Mancini, Grazia M S
Naidu, Sakkubai
van Slegtenhorst, Marjon
McWalter, Kirsty
Person, Richard
Mwenifumbo, Jill
Salvarinova, Ramona
CAUSES Study
EPGEN Study
Guella, Ilaria
McKenzie, Marna B
Datta, Anita
Connolly, Mary B
Kalkhoran, Somayeh Mojard
Poburko, Damon
Friedman, Jan M
Farrer, Matthew J
Demos, Michelle
Desai, Sonal
Claydon, Thomas

July 2017

KCNQ5 is a highly conserved gene encoding an important channel for neuronal function; it is widely e...

A novel epileptic encephalopathy mutation in KCNB1 disrupts Kv2.1 ion selectivity, expression, and localization.

Thiffault, Isabelle
Speca, David J
Austin, Daniel C
Cobb, Melanie M
Eum, Kenneth S
Safina, Nicole P
Grote, Lauren
Farrow, Emily G
Miller, Neil
Soden, Sarah
Kingsmore, Stephen F
Trimmer, James S
Saunders, Carol J
Sack, Jon T

November 2015

The epileptic encephalopathies are a group of highly heterogeneous genetic disorders. The majority o...

Spectrum of Phenotypic, Genetic, and Functional Characteristics in Epilepsy Patients With KCNC2 Pathogenic Variants 10.1212/WNL.0000000000200660

March 2022

peer reviewedBackground: KCNC2 encodes Kv3.2, a member of the Shaw-related (Kv3) voltage-gated potas...

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

February 2023

International audienceBackground and Objectives KCNH5 encodes the voltage-gated potassium channel EA...

First de novo KCND3 mutation causes severe Kv4.3 channel dysfunction leading to early onset cerebellar ataxia, intellectual disability, oral apraxia and epilepsy

Smets, K.
Duarri, A.
Deconinck, T.
Ceulemans, B.
Warrenburg, B.P.C. van de
Zuchner, S.
Gonzalez, M.A.
Schule, R.
Synofzik, M.
Aa, N. van der
Jonghe, P. De
Verbeek, D.S.
Baets, J.

January 2015

Contains fulltext : 155287.pdf (publisher's version ) (Open Access)BACKGROUND: Ide...