(Q40558873)

21 September 2017

De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy (English)

1 reference

Christine Van Broeckhoven

21 September 2017

1 reference

12

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13

object named as

Christine Van Broeckhoven

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Lina Basel-Vanagaite

8

object named as

Lina Basel-Vanagaite

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author name string

Lieve Claes

1

1 reference

21 September 2017

Berten Ceulemans

2

1 reference

21 September 2017

Dominique Audenaert

3

1 reference

21 September 2017

Katrien Smets

4

1 reference

21 September 2017

Ann Löfgren

5

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21 September 2017

Jurgen Del-Favero

6

1 reference

21 September 2017

Sirpa Ala-Mello

7

1 reference

21 September 2017

Barbara Plecko

9

1 reference

21 September 2017

Salmo Raskin

10

1 reference

21 September 2017

Paul Thiry

11

1 reference

21 September 2017

Peter De Jonghe

14

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21 September 2017

1 June 2003

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21 September 2017

1 reference

21 September 2017

21

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21 September 2017

6

1 reference

21 September 2017

615-621

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Partial and generalized epilepsy with febrile seizures plus and a novel SCN1A mutation

21 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Determination of single-nucleotide polymorphisms by real-time pyrophosphate DNA sequencing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

A potassium channel mutation in neonatal human epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

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/10.1002%2FHUMU.10217

Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Nomenclature for the description of human sequence variations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

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/10.1002%2FHUMU.10217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

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/10.1002%2FHUMU.10217

LGI1 is mutated in familial temporal lobe epilepsy characterized by aphasic seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Molecular basis of an inherited epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

A high-resolution physical map of human chromosome 21p using yeast artificial chromosomes

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.10217

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.10217

1 reference

21 September 2017

1 reference