(Q39966055)

16 September 2017

De novo GABRA1 mutations in Ohtahara and West syndromes (English)

1 reference

16 September 2017

Yoshinori Tsurusaki

15

0 references

Hirotomo Saitsu

object named as

Hirotomo Saitsu

21

0 references

Mitsuhiro Kato

object named as

Mitsuhiro Kato

3

0 references

author name string

Hirofumi Kodera

1

1 reference

16 September 2017

Chihiro Ohba

2

1 reference

16 September 2017

Toshiyuki Maeda

4

1 reference

16 September 2017

Kaoru Araki

5

1 reference

16 September 2017

Daisuke Tajima

6

1 reference

16 September 2017

Muneaki Matsuo

7

1 reference

16 September 2017

Naomi Hino-Fukuyo

8

1 reference

16 September 2017

Kosuke Kohashi

9

1 reference

16 September 2017

Akihiko Ishiyama

10

1 reference

16 September 2017

Saoko Takeshita

11

1 reference

16 September 2017

Hirotaka Motoi

12

1 reference

16 September 2017

Taro Kitamura

13

1 reference

16 September 2017

Atsuo Kikuchi

14

1 reference

16 September 2017

Mitsuko Nakashima

16

1 reference

16 September 2017

Noriko Miyake

17

1 reference

16 September 2017

Masayuki Sasaki

18

1 reference

16 September 2017

Shigeo Kure

19

1 reference

16 September 2017

Kazuhiro Haginoya

20

1 reference

16 September 2017

Naomichi Matsumoto

22

1 reference

16 September 2017

25 February 2016

1 reference

16 September 2017

1 reference

16 September 2017

57

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16 September 2017

4

1 reference

16 September 2017

566-573

1 reference

Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009

16 September 2017

1 reference

GABA: a pioneer transmitter that excites immature neurons and generates primitive oscillations

21 January 2018

1 reference

Forced subunit assembly in alpha1beta2gamma2 GABAA receptors. Insight into the absolute arrangement

21 January 2018

1 reference

21 January 2018

GABAA receptor channels

1 reference

Which GABAA-receptor subtypes really occur in the brain?

21 January 2018

1 reference

Novel α1 and γ2 GABAA receptor subunit mutations in families with idiopathic generalized epilepsy.

21 January 2018

1 reference

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

21 January 2018

1 reference

GABRA1 and STXBP1: novel genetic causes of Dravet syndrome

21 January 2018

1 reference

De novo mutations in epileptic encephalopathies

21 January 2018

1 reference

De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood

21 January 2018

1 reference

De novo KCNT1 mutations in early-onset epileptic encephalopathy.

21 January 2018

1 reference

Exome sequencing of ion channel genes reveals complex profiles confounding personal risk assessment in epilepsy

21 January 2018

1 reference

The role of neuronal GABA(A) receptor subunit mutations in idiopathic generalized epilepsies.

21 January 2018

1 reference

A novel variant in GABRB2 associated with intellectual disability and epilepsy.

21 January 2018

1 reference

Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.

21 January 2018

1 reference

A new paradigm of channelopathy in epilepsy syndromes: intracellular trafficking abnormality of channel molecules.

21 January 2018

1 reference

Mutational analysis of GABRG2 in a Japanese cohort with childhood epilepsies.

21 January 2018

1 reference

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

21 January 2018

1 reference

Genes and loci involved in febrile seizures and related epilepsy syndromes

21 January 2018

1 reference

A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions

21 January 2018

1 reference

The intronic GABRG2 mutation, IVS6+2T->G, associated with childhood absence epilepsy altered subunit mRNA intron splicing, activated nonsense-mediated decay, and produced a stable truncated γ2 subunit

21 January 2018

1 reference

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

21 January 2018

1 reference

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

21 January 2018

1 reference

SCN1A, SCN1B, and GABRG2 gene mutation analysis in Chinese families with generalized epilepsy with febrile seizures plus.

21 January 2018

1 reference

Impaired surface αβγ GABA(A) receptor expression in familial epilepsy due to a GABRG2 frameshift mutation

21 January 2018

1 reference

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

21 January 2018

1 reference

Comparative models of GABAA receptor extracellular and transmembrane domains: important insights in pharmacology and function.

21 January 2018

1 reference

A neurosteroid potentiation site can be moved among GABAA receptor subunits.

21 January 2018

1 reference

Neurosteroids and GABAA receptor function.

21 January 2018

1 reference

Pharmacology of endogenous neuroactive steroids.

21 January 2018

1 reference

Neurosteroids as endogenous regulators of seizure susceptibility and use in the treatment of epilepsy.

21 January 2018

1 reference

Identification of channel-lining residues in the M2 membrane-spanning segment of the GABA(A) receptor alpha1 subunit

21 January 2018

1 reference

The mechanisms of action of gabapentin and pregabalin

21 January 2018

1 reference

Mechanisms of action of valproate: a commentatory

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EPI.13344

1 reference

16 September 2017

1 reference