(Q40587219)

21 September 2017

title

Familial infantile myoclonic epilepsy: clinical features in a large kindred with autosomal recessive inheritance (English)

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familial infantile myoclonic epilepsy

21 September 2017

main subject

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de Falco FA

1

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21 September 2017

Majello L

2

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21 September 2017

Santangelo R

3

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21 September 2017

Stabile M

4

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21 September 2017

Bricarelli FD

5

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21 September 2017

Zara F

6

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21 September 2017

publication date

1 December 2001

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21 September 2017

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21 September 2017

volume

42

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21 September 2017

issue

12

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21 September 2017

page(s)

1541-1548

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Myoclonic Epilepsies of Childhood

21 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

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/10.1046%2FJ.1528-1157.2001.26701.X

Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Reflex Myoclonic Epilepsy in Infancy: A New Age‐Dependent Idiopathic Epileptic Syndrome Related to Startle Reaction

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Benign myoclonic epilepsy: long-term follow-up of 11 new cases

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Benign myoclonic epilepsy in infants: video-EEG features and long-term follow-up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Gene mapping in the idiopathic generalized epilepsies: juvenile myoclonic epilepsy, childhood absence epilepsy, epilepsy with grand mal seizures, and early childhood myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Severe infant myoclonic epilepsy (author's transl)

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

The genetics of idiopathic generalized epilepsy: implications for the understanding of its aetiology

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Impact of our understanding of the genetic aetiology of epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Genome search for susceptibility loci of common idiopathic generalised epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Confirmation of linkage between juvenile myoclonic epilepsy locus and the HLA region of chromosome 6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

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

21 January 2018

1 reference

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21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1528-1157.2001.26701.X

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/10.1046%2FJ.1528-1157.2001.26701.X

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/10.1046%2FJ.1528-1157.2001.26701.X

10.1046/J.1528-1157.2001.26701.X

21 January 2018

Identifiers

DOI

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21 September 2017

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