(Q40979944)

25 September 2017

1 reference

title

Shaking down new epilepsy genes (English)

1 reference

25 September 2017

Allen KM

1

1 reference

PubMed ID

8616704

25 September 2017

Walsh C

series ordinal

2

1 reference

PubMed ID

8616704

25 September 2017

language of work or name

English

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publication date

1 May 1996

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25 September 2017

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25 September 2017

2

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25 September 2017

5

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25 September 2017

516-518

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https://scigraph.springernature.com/pub.10.1038/nm0596-516

25 September 2017

0 references

cites work

The cystatins: Protein inhibitors of cysteine proteinases

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

A missense mutation in the gene encoding the alpha 1 subunit of the inhibitory glycine receptor in the spasmodic mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

Essential functions of synapsins I and II in synaptic vesicle regulation

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor alpha 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

Distinct pools of synaptic vesicles in neurotransmitter release

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

Periventricular Heterotopia: An X-Linked Dominant Epilepsy Locus Causing Aberrant Cerebral Cortical Development

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

A nonsense mutation in the alpha4 subunit of the nicotinic acetylcholine receptor (CHRNA4) cosegregates with 20q-linked benign neonatal familial convulsions (EBNI)

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

Impairment of synaptic vesicle clustering and of synaptic transmission, and increased seizure propensity, in synapsin I-deficient mice

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

Suppression of synapsin II inhibits the formation and maintenance of synapses in hippocampal culture

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

Limbic epilepsy in transgenic mice carrying a Ca2+/calmodulin-dependent kinase II alpha-subunit mutation

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

Partial epilepsy: chinks in the armour

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

Mapping of genes predisposing to idiopathic generalized epilepsy

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

The gene for a recessively inherited human childhood progressive epilepsy with mental retardation maps to the distal short arm of chromosome 8

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.

1 reference

https://api.crossref.org/works/10.1038%2FNM0596-516

7 January 2021

Identifiers

DOI

10.1038/NM0596-516

1 reference

25 September 2017

1 reference

PubMed ID

8616704