The quest for juvenile myoclonic epilepsy genes (Q38113665)

29 August 2017

title

The quest for juvenile myoclonic epilepsy genes (English)

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juvenile myoclonic epilepsy

29 August 2017

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based on heuristic

inferred from title

author name string

Antonio V Delgado-Escueta

1

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29 August 2017

Bobby P C Koeleman

2

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29 August 2017

Julia N Bailey

3

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29 August 2017

Marco T Medina

4

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29 August 2017

Reyna M Durón

5

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29 August 2017

publication date

1 July 2013

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29 August 2017

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29 August 2017

volume

28 Suppl 1

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29 August 2017

page(s)

S52-7

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Juvenile myoclonic epilepsy of Janz.

29 August 2017

cites work

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

7 January 2021

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GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies

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Mutations in EFHC1 cause juvenile myoclonic epilepsy

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BRD2 (RING3) is a probable major susceptibility gene for common juvenile myoclonic epilepsy

7 January 2021

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Association of the connexin36 gene with juvenile myoclonic epilepsy

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Malic enzyme 2 may underlie susceptibility to adolescent-onset idiopathic generalized epilepsy

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Delta subunit susceptibility variants E177A and R220H associated with complex epilepsy alter channel gating and surface expression of alpha4beta2delta GABAA receptors

7 January 2021

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GABA(A) receptor alpha1 subunit mutation A322D associated with autosomal dominant juvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors

7 January 2021

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Attenuated sensitivity to neuroactive steroids in gamma-aminobutyrate type A receptor delta subunit knockout mice.

7 January 2021

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Decreased viability and absence-like epilepsy in mice lacking or deficient in the GABAA receptor α1 subunit

7 January 2021

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Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility.

7 January 2021

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

7 January 2021

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7 January 2021

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Mice carrying the szt1 mutation exhibit increased seizure susceptibility and altered sensitivity to compounds acting at the m-channel

7 January 2021

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Abnormal cerebral structure in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI

7 January 2021

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7 January 2021

Identifiers

DOI

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29 August 2017

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