Dissecting the genetic basis of myoclonic-astatic epilepsy (Q38025187)

27 August 2017

Dissecting the genetic basis of myoclonic-astatic epilepsy (English)

1 reference

27 August 2017

Shan Tang

1

1 reference

PubMed ID

22780699

27 August 2017

Deb K Pal

series ordinal

2

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27 August 2017

10 July 2012

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27 August 2017

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27 August 2017

53

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27 August 2017

8

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27 August 2017

1303-1313

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Lennox-Gastaut syndrome: a consensus approach on diagnosis, assessment, management, and trial methodology

27 August 2017

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

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

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Epilepsies in twins: genetics of the major epilepsy syndromes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Human epilepsies: interaction of genetic and acquired factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Different neurophysiologic patterns of myoclonus characterize Lennox-Gastaut syndrome and myoclonic astatic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.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/10.1111%2FJ.1528-1167.2012.03581.X

Photosensitivity--genetics and clinical significance

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Centrencephalic Myoclonic-Astatic Petit Mal1– Clinical and genetic investigations

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

The Lennox-Gastaut syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

The axial spasm--the predominant type of drop seizure in patients with secondary generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Report of the ILAE classification core group

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.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/10.1111%2FJ.1528-1167.2012.03581.X

Neuropsychological findings: myoclonic astatic epilepsy (MAE) and Lennox-Gastaut syndrome (LGS).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

The endophenotype concept in psychiatry: etymology and strategic intentions

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Blinders, phenotype, and fashionable genetic analysis: a critical examination of the current state of epilepsy genetic studies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Spectral analysis of EEG in the late course of primary generalized myoclonic-astatic epilepsy. I. EEG and clinical data

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

True myoclonic epilepsy in childhood

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Rare deletions at 16p13.11 predispose to a diverse spectrum of sporadic epilepsy syndromes

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

An analytic study of epileptic falls.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

The 1000 Genomes Project: deep genomic sequencing waiting for deep psychiatric phenotyping

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Delineation of cryptogenic Lennox-Gastaut syndrome and myoclonic astatic epilepsy using multiple correspondence analysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Doose syndrome (myoclonic-astatic epilepsy): 40 years of progress

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Altered DNA copy number in patients with different seizure disorder type: by array-CGH.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Epileptic seizures and syndromes in twins: the importance of genetic factors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Computerized Cranial Transverse Axial Tomography (CTAT) in 145 Patients with Primary and Secondary Generalized Epilepsies – West Syndrome, Myoclonic-Astatic Petit Mal, Absence Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Personality traits in patients with juvenile myoclonic epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Epilepsy and the new cytogenetics

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Exome sequencing identifies the cause of a mendelian disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Myoclonic-astatic epilepsy of early childhood--clinical and EEG analysis of myoclonic-astatic seizures, and discussions on the nosology of the syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Treatment and long-term prognosis of myoclonic-astatic epilepsy of early childhood.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Accuracy of family history information on epilepsy and other seizure disorders

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Complex inheritance and parent-of-origin effect in juvenile myoclonic epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Exome sequencing identifies SMAD3 mutations as a cause of familial thoracic aortic aneurysm and dissection with intracranial and other arterial aneurysms

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Genetic determination of the human EEG. Survey of recent results on twins reared together and apart.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

The natural history of myoclonic astatic epilepsy (Doose syndrome) and Lennox-Gastaut syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Centrotemporal sharp wave EEG trait in rolandic epilepsy maps to Elongator Protein Complex 4 (ELP4).

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

The different patterns of the photoparoxysmal response--a genetic study

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

Focal epilepsy of probable temporal lobe origin in a Gypsy family showing linkage to a novel locus on 7p21.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1111%2FJ.1528-1167.2012.03581.X

10.1111/J.1528-1167.2012.03581.X

21 January 2018

Identifiers

DOI

1 reference

27 August 2017

1 reference

PubMed ID

22780699