Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation. (Q45406859)

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29 February 2020

title

Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation (English)

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22

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Mitsuhiro Kato

1

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Masaya Kubota

3

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Hiroshi Arai

4

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Hirotomo Saitsu

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author name string

Takanori Yamagata

2

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Sumimasa Yamashita

5

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29 February 2020

Taku Nakagawa

6

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29 February 2020

Takanari Fujii

7

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29 February 2020

Kenji Sugai

8

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29 February 2020

Kaoru Imai

9

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Tami Uster

10

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David Chitayat

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Shelly Weiss

12

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Hirofumi Kashii

13

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Ryosuke Kusano

14

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Ayumi Matsumoto

15

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29 February 2020

Kazuyuki Nakamura

16

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Yoshinobu Oyazato

17

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Mari Maeno

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Kiyomi Nishiyama

19

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Hirofumi Kodera

20

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Mitsuko Nakashima

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Noriko Miyake

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Kayoko Saito

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Kiyoshi Hayasaka

25

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Naomichi Matsumoto

26

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publication date

26 April 2013

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volume

54

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page(s)

1282-1287

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issue

7

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A potassium channel mutation in neonatal human epilepsy

29 February 2020

cites work

1 reference

A novel mutation in KCNQ2 associated with BFNC, drug resistant epilepsy, and mental retardation

21 January 2018

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De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy

21 January 2018

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Neonatal convulsions and epileptic encephalopathy in an Italian family with a missense mutation in the fifth transmembrane region of KCNQ2

21 January 2018

1 reference

A framework for variation discovery and genotyping using next-generation DNA sequencing data

21 January 2018

1 reference

Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardation

21 January 2018

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A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)

21 January 2018

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Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

21 January 2018

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Temperature and pharmacological rescue of a folding-defective, dominant-negative KV 7.2 mutation associated with neonatal seizures.

21 January 2018

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Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

21 January 2018

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Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy

21 January 2018

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KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy

21 January 2018

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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

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CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

21 January 2018

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Neonatal seizures with tonic clonic sequences and poor developmental outcome

21 January 2018

1 reference

A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns

21 January 2018

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KCNQ2 and KCNQ3 potassium channel genes in benign familial neonatal convulsions: expansion of the functional and mutation spectrum

21 January 2018

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Benign familial neonatal convulsions: always benign?

21 January 2018

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

21 January 2018

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Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.

21 January 2018

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ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

21 January 2018

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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.12200

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29 February 2020

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