The spectrum of SCN1A-related infantile epileptic encephalopathies (Q48249670)

9 February 2018

title

The spectrum of SCN1A-related infantile epileptic encephalopathies (English)

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9 February 2018

author

Samuel Berkovic

22

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9 February 2018

Jacinta M McMahon

Jacinta M McMahon

2

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Deepak Gill

Deepak Gill

9

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Mary B Connolly

Mary Connolly

11

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Sameer M Zuberi

6

Sameer M Zuberi

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9 February 2018

Ingrid Scheffer

24

Ingrid E Scheffer

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Grant R Sutherland

21

Grant Sutherland

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9 February 2018

Lynette Sadleir

7

Lynette G Sadleir

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9 February 2018

Leanne Dibbens

4

Leanne Dibbens

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9 February 2018

Thorsten Stanley

12

Thorsten Stanley

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9 February 2018

author name string

Louise A Harkin

1

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9 February 2018

Xenia Iona

3

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9 February 2018

James T Pelekanos

5

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9 February 2018

Eva Andermann

8

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Kevin Farrell

10

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9 February 2018

Michael Harbord

13

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9 February 2018

Frederick Andermann

14

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9 February 2018

Jing Wang

15

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9 February 2018

Sat Dev Batish

16

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Jeffrey G Jones

17

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William K Seltzer

18

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Alison Gardner

19

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Infantile Epileptic Encephalopathy Referral Consortium

20

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John C Mulley

23

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language of work or name

English

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publication date

1 March 2007

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9 February 2018

published in

Brain

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9 February 2018

volume

130

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9 February 2018

issue

Pt 3

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9 February 2018

page(s)

843-852

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9 February 2018

De-novo mutations of the sodium channel gene SCN1A in alleged vaccine encephalopathy: a retrospective study.

cites work

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Multifocal independent epileptiform discharges in children: ictal correlates and surgical therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Proposal for revised classification of epilepsies and epileptic syndromes. Commission on Classification and Terminology of the International League Against Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Centrencephalic Myoclonic-Astatic Petit Mal1– Clinical and genetic investigations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Severe idiopathic generalized epilepsy of infancy with generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

A proposed diagnostic scheme for people with epileptic seizures and with epilepsy: report of the ILAE Task Force on Classification and Terminology

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Mutations of sodium channel alpha subunit type 1 (SCN1A) in intractable childhood epilepsies with frequent generalized tonic-clonic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Mutations of neuronal voltage-gated Na+ channel alpha 1 subunit gene SCN1A in core severe myoclonic epilepsy in infancy (SMEI) and in borderline SMEI (SMEB)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Severe myoclonic epilepsy of infancy (Dravet syndrome): recognition and diagnosis in adults

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Effect of localization of missense mutations in SCN1A on epilepsy phenotype severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Refractory grand mal seizures with onset during infancy including severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

A missense mutation in SCN1A in brothers with severe myoclonic epilepsy in infancy (SMEI) inherited from a father with febrile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Slow spike-wave activity in EEG and associated clinical features: Often called 'Lennox' or 'Lennox-Gastaut' syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

SCN1A mutations and epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Epileptic encephalopathies: a brief overview

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Absence of mutations in major GEFS+ genes in myoclonic astatic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Is phenotype difference in severe myoclonic epilepsy in infancy related to SCN1A mutations?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Lennox-Gastaut syndrome: a new vista

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Refractory childhood epilepsy and factors related to refractoriness

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Severe infantile epilepsies: molecular genetics challenge clinical classification

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Severe myoclonic epilepsy of infancy: extended spectrum of GEFS+?

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Sodium channel alpha1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Denaturing high-performance liquid chromatography: A review

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Severe epilepsy with multiple independent spike foci

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Multiple independent spike foci and epilepsy, with special reference to a new epileptic syndrome of "severe epilepsy with multiple independent spike foci".

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Somatic and germline mosaicisms in Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

Mosaic SCN1A Mutation in Familial Severe Myoclonic Epilepsy of Infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

A new molecular mechanism for severe myoclonic epilepsy of infancy: Exonic deletions in SCN1A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FBRAIN%2FAWM002

21 January 2018

Identifiers

DOI

10.1093/BRAIN/AWM002

1 reference

9 February 2018

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9 February 2018