(Q45406859)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

title

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

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

22

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Mitsuhiro Kato

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Masaya Kubota

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hiroshi Arai

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hirotomo Saitsu

27

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

author name string

Takanori Yamagata

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Sumimasa Yamashita

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Taku Nakagawa

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Takanari Fujii

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kenji Sugai

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kaoru Imai

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Tami Uster

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

David Chitayat

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Shelly Weiss

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hirofumi Kashii

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Ryosuke Kusano

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Ayumi Matsumoto

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kazuyuki Nakamura

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Yoshinobu Oyazato

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Mari Maeno

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kiyomi Nishiyama

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Hirofumi Kodera

20

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Mitsuko Nakashima

21

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Noriko Miyake

23

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kayoko Saito

24

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Kiyoshi Hayasaka

25

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

Naomichi Matsumoto

26

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

publication date

26 April 2013

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

volume

54

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

issue

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

page(s)

1282-1287

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

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

1 reference

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

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

Severe epilepsy resulting from genetic interaction between Scn2a and Kcnq2.

21 January 2018

1 reference

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

21 January 2018

1 reference

Impaired mitochondrial glutamate transport in autosomal recessive neonatal myoclonic epilepsy

21 January 2018

1 reference

Oral high-dose phenobarbital therapy for early infantile epileptic encephalopathy

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

CASK aberrations in male patients with Ohtahara syndrome and cerebellar hypoplasia

21 January 2018

1 reference

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

1 reference

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

21 January 2018

1 reference

Benign familial neonatal convulsions: always benign?

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.12200

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:23621294%20AND%20SRC:MED&resulttype=core&format=json

29 February 2020

1 reference