(Q40234196)

18 September 2017

Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia (English)

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18 September 2017

N Schwarz

1

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18 September 2017

A Hahn

2

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18 September 2017

T Bast

3

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18 September 2017

S Müller

4

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18 September 2017

H Löffler

5

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18 September 2017

S Maljevic

6

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18 September 2017

E Gaily

7

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18 September 2017

I Prehl

8

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18 September 2017

S Biskup

9

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18 September 2017

T Joensuu

10

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18 September 2017

A-E Lehesjoki

11

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18 September 2017

B A Neubauer

12

1 reference

18 September 2017

H Lerche

13

1 reference

18 September 2017

U B S Hedrich

14

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18 September 2017

8 December 2015

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18 September 2017

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18 September 2017

263

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18 September 2017

2

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18 September 2017

334-343

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https://scigraph.springernature.com/pub.10.1007/s00415-015-7984-0

18 September 2017

0 references

cites work

Ion channels in genetic and acquired forms of epilepsy

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Episodic neurologic disorders: syndromes, genes, and mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Migraine in the borderland of epilepsy: "migralepsy" an overlapping syndrome of children and adults?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Epilepsy and autism: is there a special relationship?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Effects in neocortical neurons of mutations of the Na(v)1.2 Na+ channel causing benign familial neonatal-infantile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Acute encephalopathy with a novel point mutation in the SCN2A gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

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%2FS00415-015-7984-0

Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Calcium-sensitive potassium channelopathy in human epilepsy and paroxysmal movement disorder

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Early-onset absence epilepsy and paroxysmal dyskinesia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy

21 January 2018

2 references

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

21 January 2018

https://pubmed.ncbi.nlm.nih.gov/26645390

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

The spectrum of benign infantile seizures

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

A randomized trial of 4-aminopyridine in EA2 and related familial episodic ataxias

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

The startle syndromes: physiology and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Primary episodic ataxias: diagnosis, pathogenesis and treatment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Episodic ataxia type 1 without episodic ataxia: the diagnostic utility of nerve excitability studies in individuals with KCNA1 mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Function of inhibitory micronetworks is spared by Na+ channel-acting anticonvulsant drugs.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Impaired NaV1.2 function and reduced cell surface expression in benign familial neonatal-infantile seizures.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Expression and distribution of voltage-gated sodium channels in the cerebellum

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00415-015-7984-0

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26645390

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Confirming an expanded spectrum of SCN2A mutations: a case series

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/26645390

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1007/S00415-015-7984-0

1 reference

18 September 2017

1 reference