(Q38205181)

31 August 2017

title

Epilepsy: old syndromes, new genes (English)

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31 August 2017

1

Sarah Weckhuysen

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31 August 2017

Christian M Korff

2

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31 August 2017

publication date

1 June 2014

1 reference

Current Neurology and Neuroscience Reports

31 August 2017

published in

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31 August 2017

volume

14

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31 August 2017

issue

6

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31 August 2017

page(s)

447

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Estimating risk for developing epilepsy: a population-based study in Rochester, Minnesota

31 August 2017

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

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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De novo SCN1A mutations in migrating partial seizures of infancy

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KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy.

21 January 2018

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De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy

21 January 2018

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Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

21 January 2018

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GRIN2A mutations cause epilepsy-aphasia spectrum disorders

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GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction

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Extending the KCNQ2 encephalopathy spectrum: clinical and neuroimaging findings in 17 patients

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Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.

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

21 January 2018

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Genotype-phenotype correlations in neonatal epilepsies caused by mutations in the voltage sensor of K(v)7.2 potassium channel subunits

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Sodium-channel defects in benign familial neonatal-infantile seizures

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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

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Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome.

21 January 2018

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Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

21 January 2018

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De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies

21 January 2018

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Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

21 January 2018

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A nonsense mutation of the sodium channel gene SCN2A in a patient with intractable epilepsy and mental decline

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

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De Novo Gene Disruptions in Children on the Autistic Spectrum

21 January 2018

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De novo mutations revealed by whole-exome sequencing are strongly associated with autism

21 January 2018

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Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia

21 January 2018

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PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome

21 January 2018

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Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16

21 January 2018

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Linkage of benign familial infantile convulsions to chromosome 16p12-q12 suggests allelism to the infantile convulsions and choreoathetosis syndrome

21 January 2018

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Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy.

21 January 2018

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PRRT2 gene mutations: from paroxysmal dyskinesia to episodic ataxia and hemiplegic migraine

21 January 2018

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PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.

21 January 2018

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PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

21 January 2018

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PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

21 January 2018

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PRRT2 mutations: exploring the phenotypical boundaries.

21 January 2018

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Homozygous c.649dupC mutation in PRRT2 worsens the BFIS/PKD phenotype with mental retardation, episodic ataxia, and absences.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology.

21 January 2018

1 reference

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De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

21 January 2018

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Identification of a novel de novo p.Phe932Ile KCNT1 mutation in a patient with leukoencephalopathy and severe epilepsy

21 January 2018

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SCN1A testing for epilepsy: application in clinical practice.

21 January 2018

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SLC25A22 is a novel gene for migrating partial seizures in infancy.

21 January 2018

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Novel compound heterozygous mutations in TBC1D24 cause familial malignant migrating partial seizures of infancy.

21 January 2018

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Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

21 January 2018

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Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts

21 January 2018

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Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy

21 January 2018

1 reference

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TBC1D24, an ARF6-interacting protein, is mutated in familial infantile myoclonic epilepsy

21 January 2018

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https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24.

21 January 2018

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TBC1D24 truncating mutation resulting in severe neurodegeneration.

21 January 2018

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The genetic basis of DOORS syndrome: an exome-sequencing study

21 January 2018

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De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Deletions in 16p13 including GRIN2A in patients with intellectual disability, various dysmorphic features, and seizure disorders of the rolandic region.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Mutations of DEPDC5 cause autosomal dominant focal epilepsies

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

A Tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

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/10.1007%2FS11910-014-0447-7

Intellectual disability without epilepsy associated with STXBP1 disruption

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Diagnostic exome sequencing in persons with severe intellectual disability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS11910-014-0447-7

Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B.

21 January 2018

1 reference

12 December 2020

Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis

1 reference

12 December 2020

Correlating the clinical and genetic features of benign familial neonatal seizures (BFNS) with the functional consequences of underlying mutations

1 reference

12 December 2020

Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2

1 reference

12 December 2020

Dominant-negative effects of KCNQ2 mutations are associated with epileptic encephalopathy.

1 reference

12 December 2020

Autosomal dominant inheritance of centrotemporal sharp waves in rolandic epilepsy families

1 reference

12 December 2020

10.1007/S11910-014-0447-7

Identifiers

DOI

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Dimensions Publication ID

31 August 2017

1052626775

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Fatcat ID

release_gi7u4r4f5zfavlous7b3vy5seq

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Fatcat

https://api.fatcat.wiki/v0/release/gi7u4r4f5zfavlous7b3vy5seq

24 November 2022

mapped directly with Wikidata item

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