(Q48096410)

8 February 2018

title

De novo KCNT1 mutations in early-onset epileptic encephalopathy. (English)

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8 February 2018

author

Yoshinori Tsurusaki

18

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8 February 2018

Hirotomo Saitsu

21

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8 February 2018

Mitsuhiro Kato

object named as

Mitsuhiro Kato

2

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author name string

Chihiro Ohba

1

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8 February 2018

Nobuya Takahashi

3

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8 February 2018

Hitoshi Osaka

4

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8 February 2018

Takashi Shiihara

5

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8 February 2018

Jun Tohyama

6

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8 February 2018

Shin Nabatame

7

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8 February 2018

Junji Azuma

8

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8 February 2018

Yuji Fujii

9

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8 February 2018

Munetsugu Hara

10

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8 February 2018

Reimi Tsurusawa

11

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8 February 2018

Takahito Inoue

12

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8 February 2018

Reina Ogata

13

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8 February 2018

Yoriko Watanabe

14

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8 February 2018

Noriko Togashi

15

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8 February 2018

Hirofumi Kodera

16

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8 February 2018

Mitsuko Nakashima

17

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8 February 2018

Noriko Miyake

19

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8 February 2018

Fumiaki Tanaka

20

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8 February 2018

Naomichi Matsumoto

22

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8 February 2018

publication date

3 July 2015

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8 February 2018

published in

Epilepsia

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8 February 2018

volume

56

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8 February 2018

issue

9

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8 February 2018

page(s)

e121-8

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8 February 2018

Genes of early-onset epileptic encephalopathies: from genotype to phenotype

cites work

1 reference

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

21 January 2018

1 reference

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.

21 January 2018

1 reference

Is slack an intrinsic seizure terminator?

21 January 2018

1 reference

Slack, Slick and Sodium-Activated Potassium Channels

21 January 2018

1 reference

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

21 January 2018

1 reference

A recurrent KCNT1 mutation in two sporadic cases with malignant migrating partial seizures in infancy.

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

21 January 2018

1 reference

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

21 January 2018

1 reference

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

1 reference

Structure of the human BK channel Ca2+-activation apparatus at 3.0 A resolution

21 January 2018

1 reference

KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine

21 January 2018

1 reference

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.13072

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8 February 2018

PubMed ID

26140313

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8 February 2018