Genetic basis of the human epilepsies (Q33748744)

29 July 2017

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title

Genetic basis of the human epilepsies (English)

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29 July 2017

Gardiner RM

1

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29 July 2017

publication date

1 September 1999

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29 July 2017

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29 July 2017

volume

36

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29 July 2017

issue

2-3

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29 July 2017

page(s)

91-95

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A potassium channel mutation in neonatal human epilepsy

29 July 2017

cites work

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7 January 2021

Germline mutations in the homeobox gene EMX2 in patients with severe schizencephaly.

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7 January 2021

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

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7 January 2021

A novel CNS gene required for neuronal migration and involved in X-linked subcortical laminar heterotopia and lissencephaly syndrome

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https://api.crossref.org/works/10.1016%2FS0920-1211%2899%2900043-1

7 January 2021

Genetic mapping of a major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q.

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7 January 2021

Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia.

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7 January 2021

Doublecortin, a brain-specific gene mutated in human X-linked lissencephaly and double cortex syndrome, encodes a putative signaling protein

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7 January 2021

Miller-Dieker lissencephaly gene encodes a subunit of brain platelet-activating factor acetylhydrolase [corrected]

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https://api.crossref.org/works/10.1016%2FS0920-1211%2899%2900043-1

7 January 2021

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

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7 January 2021

Centrotemporal spikes in families with rolandic epilepsy: linkage to chromosome 15q14.

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2899%2900043-1

7 January 2021

CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

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7 January 2021

Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes

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7 January 2021

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

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https://api.crossref.org/works/10.1016%2FS0920-1211%2899%2900043-1

7 January 2021

Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis

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7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2899%2900043-1

7 January 2021

An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy

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https://api.crossref.org/works/10.1016%2FS0920-1211%2899%2900043-1

7 January 2021

Isolation of a novel gene underlying batten disease, CLN3

1 reference

https://api.crossref.org/works/10.1016%2FS0920-1211%2899%2900043-1

7 January 2021

Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

1 reference

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7 January 2021

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1 reference

7 January 2021

10.1016/S0920-1211(99)00043-1

Identifiers

DOI

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29 July 2017

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