Early onset epileptic encephalopathy caused by de novo SCN8A mutations (Q45736221)

15 December 2017

Early onset epileptic encephalopathy caused by de novo SCN8A mutations (English)

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15 December 2017

18

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15 December 2017

Hirotomo Saitsu

22

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Hadassa Goldberg-Stern

12

Hadassa Goldberg-Stern

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15 December 2017

Esther Leshinsky-Silver

15

Esther Leshinsky-Silver

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Tally Lerman-Sagie

4

Tally Lerman-Sagie

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15 December 2017

Mitsuhiro Kato

2

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Dorit Lev

5

Dorit Lev

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15 December 2017

Chihiro Ohba

1

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15 December 2017

Satoru Takahashi

3

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15 December 2017

Hiroshi Terashima

6

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15 December 2017

Masaya Kubota

7

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15 December 2017

Hisashi Kawawaki

8

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15 December 2017

Mayumi Matsufuji

9

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15 December 2017

Yasuko Kojima

10

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15 December 2017

Akihiko Tateno

11

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15 December 2017

Rachel Straussberg

13

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15 December 2017

Dafna Marom

14

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15 December 2017

Mitsuko Nakashima

16

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15 December 2017

Kiyomi Nishiyama

17

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15 December 2017

Noriko Miyake

19

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15 December 2017

Fumiaki Tanaka

20

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15 December 2017

Naomichi Matsumoto

21

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15 December 2017

2 June 2014

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15 December 2017

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15 December 2017

55

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15 December 2017

994-1000

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15 December 2017

7

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The distribution and targeting of neuronal voltage-gated ion channels

15 December 2017

1 reference

Sodium channels and the neurobiology of epilepsy

21 January 2018

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Sodium channel mutations in epilepsy and other neurological disorders

21 January 2018

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Comparative distribution of voltage-gated sodium channel proteins in human brain

21 January 2018

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Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

21 January 2018

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Sodium channel Na(v)1.6 is localized at nodes of ranvier, dendrites, and synapses

21 January 2018

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Rbfox proteins regulate alternative splicing of neuronal sodium channel SCN8A

21 January 2018

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Sodium channel SCN8A (Nav1.6): properties and de novo mutations in epileptic encephalopathy and intellectual disability

21 January 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

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

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Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1.

21 January 2018

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

21 January 2018

1 reference

Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy

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

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Neurological perspectives on voltage-gated sodium channels.

21 January 2018

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Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

21 January 2018

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Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

21 January 2018

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From ionic currents to molecular mechanisms: the structure and function of voltage-gated sodium channels

21 January 2018

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Trafficking mechanisms underlying neuronal voltage-gated ion channel localization at the axon initial segment

21 January 2018

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A role of SCN9A in human epilepsies, as a cause of febrile seizures and as a potential modifier of Dravet syndrome

21 January 2018

1 reference

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.

21 January 2018

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Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation

21 January 2018

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Allelic mutations of the sodium channel SCN8A reveal multiple cellular and physiological functions

21 January 2018

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Heterozygous mutations of the voltage-gated sodium channel SCN8A are associated with spike-wave discharges and absence epilepsy in mice

21 January 2018

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Sodium channel SCN1A and epilepsy: mutations and mechanisms

21 January 2018

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Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions

21 January 2018

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Sudden, unexpected death in epilepsy

21 January 2018

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21 January 2018

Identifiers

DOI

10.1111/EPI.12668

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15 December 2017

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