Exploring New Gene Discoveries in Idiopathic Generalized Epilepsy (Q35129602)

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3 November 2019

review article

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title

Exploring new gene discoveries in idiopathic generalized epilepsy (English)

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3 November 2019

Exploring New Gene Discoveries in Idiopathic Generalized Epilepsy (English)

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https://api.crossref.org/works/10.1046/J.1528-1157.44.S.2.4.X

3 January 2024

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https://api.crossref.org/works/10.1046/J.1528-1157.44.S.2.4.X

3 January 2024

1

Jeffrey L Noebels

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3 November 2019

language of work or name

English

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National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=12752457

3 January 2024

publication date

1 January 2003

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full work available at URL

3 November 2019

https://onlinelibrary.wiley.com/doi/pdfdirect/10.1046/j.1528-1157.44.s.2.4.x

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https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1046/j.1528-1157.44.s.2.4.x

3 January 2024

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https://onlinelibrary.wiley.com/doi/pdf/10.1046/j.1528-1157.44.s.2.4.x

3 January 2024

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3 January 2024

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752457 AND SRC:MED&resulttype=core&format=json

3 November 2019

volume

44 Suppl 2

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3 November 2019

page(s)

16-21

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Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy

3 November 2019

cites work

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ILAE Genetics Commission Conference Report: Molecular Analysis of Complex Genetic Epilepsies

3 January 2024

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The Sequence of the Human Genome

3 January 2024

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Initial sequencing and comparative analysis of the mouse genome

3 January 2024

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3 January 2024

Targeting epilepsy genes

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Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel

3 January 2024

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

3 January 2024

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

3 January 2024

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A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus--and prevalence of variants in patients with epilepsy

3 January 2024

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

3 January 2024

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

3 January 2024

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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

3 January 2024

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Sodium-channel defects in benign familial neonatal-infantile seizures

3 January 2024

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Molecular basis of an inherited epilepsy

3 January 2024

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

3 January 2024

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

3 January 2024

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Excitatory actions of gaba during development: the nature of the nurture

3 January 2024

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Ionic mechanisms of neuronal excitation by inhibitory GABAA receptors

3 January 2024

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KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel

3 January 2024

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

3 January 2024

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

3 January 2024

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A potassium channel mutation in neonatal human epilepsy

3 January 2024

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

3 January 2024

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Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel

3 January 2024

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Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner

3 January 2024

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Presynaptic Ca(2 ) influx at a mouse central synapse with Ca(2 ) channel subunit mutations

3 January 2024

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Developmental changes in calcium channel types mediating central synaptic transmission.

3 January 2024

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A single gene error of noradrenergic axon growth synchronizes central neurones

3 January 2024

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Mutation of the Ca2 channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse

3 January 2024

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beta subunit reshuffling modifies N- and P/Q-type Ca2 channel subunit compositions in lethargic mouse brain

3 January 2024

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

3 January 2024

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

3 January 2024

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Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans.

3 January 2024

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

3 January 2024

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Altered kinetics and benzodiazepine sensitivity of a GABAA receptor subunit mutation [gamma 2(R43Q)] found in human epilepsy.

3 January 2024

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

3 January 2024

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

3 January 2024

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How mutations in the nAChRs can cause ADNFLE epilepsy

3 January 2024

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3 January 2024

Identifiers

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:12752457 AND SRC:MED&resulttype=core&format=json

3 November 2019

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