GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy

scientific article published on 30 August 2017

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy is …
instance of (P31):
scholarly articleQ13442814

External links are
P356DOI10.1002/ANA.25032
P698PubMed publication ID28856709

P50authorSeok-Geun LeeQ55240875
Murim ChoiQ55692861
Hyosuk ChoQ91098416
P2093author name stringInsuk So
Hee-Jung Choi
Irina Tikhonova
Shrikant Mane
Hosung Jung
Yong Beom Shin
Eunjin Kim
Byung Chan Lim
Je Sang Lee
Sang-Yoon Park
Jae Young Seong
Lindsay B Henderson
Jong-Hee Chae
Ki Joong Kim
Yong Seung Hwang
Jane Jung
Kaya Bilgüvar
Chansik Hong
Jin Sook Lee
Kathryn Miller
Suzanne D DeBrosse
Rebecca Willaert
Yongjin Yoo
Cheryl Clow
Christopher Castaldi
Eunjung Na
JeaYeok Hong
Jinhong Wie
Natasha Shur
Roseànne S Ebel
Yoo-Na Lee
Youngha Lee
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Rett syndrome is caused by mutations in X-linked MECP2, encoding methyl-CpG-binding protein 2Q22337290
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Structure of a class C GPCR metabotropic glutamate receptor 1 bound to an allosteric modulatorQ24338769
Disruption of the serine/threonine kinase 9 gene causes severe X-linked infantile spasms and mental retardationQ24532056
Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardationQ24534159
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathiesQ24563008
Rett syndrome: revised diagnostic criteria and nomenclatureQ24596295
De novo mutations in epileptic encephalopathiesQ24621776
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypesQ42871027
Impact of the DRY motif and the missing "ionic lock" on constitutive activity and G-protein coupling of the human histamine H4 receptorQ43182572
G protein-coupled inwardly rectifying K+ channels (GIRKs) mediate postsynaptic but not presynaptic transmitter actions in hippocampal neuronsQ46524326
Autism-like behaviours and germline transmission in transgenic monkeys overexpressing MeCP2.Q47341079
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Identification of novel genetic causes of Rett syndrome-like phenotypesQ50307278
A neuroprotective role for polyamines in a Xenopus tadpole model of epilepsy.Q51887204
Mutations in epilepsy and intellectual disability genes in patients with features of Rett syndrome.Q55253870
Structure, function, and modulation of GABA(A) receptorsQ26859328
Structure of class C GPCR metabotropic glutamate receptor 5 transmembrane domainQ27694576
Human GRIN2B variants in neurodevelopmental disordersQ28078173
The story of Rett syndrome: from clinic to neurobiologyQ28256549
GABAB Receptor Agonist R-Baclofen Reverses Social Deficits and Reduces Repetitive Behavior in Two Mouse Models of AutismQ28391720
A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndromeQ28504458
Direct interaction and functional coupling between voltage-gated CaV1.3 Ca2+ channel and GABAB receptor subunit 2Q28572387
The Rett syndrome protein MeCP2 regulates synaptic scalingQ28941196
A critical and cell-autonomous role for MeCP2 in synaptic scaling upQ28941201
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutationsQ29030218
De novo mutations revealed by whole-exome sequencing are strongly associated with autismQ29547269
Dysfunction in GABA signalling mediates autism-like stereotypies and Rett syndrome phenotypesQ29616326
Manipulations of MeCP2 in glutamatergic neurons highlight their contributions to Rett and other neurological disordersQ30378670
Valproate-induced neurodevelopmental deficits in Xenopus laevis tadpoles.Q30404772
Clinical review of genetic epileptic encephalopathiesQ30537230
Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Q33910551
De novo mutations in histone-modifying genes in congenital heart disease.Q34344183
Substitution of three amino acids switches receptor specificity of Gq alpha to that of Gi alphaQ34355922
GABA(B)-receptor subtypes assemble into functional heteromeric complexes.Q34485514
CDKL5/STK9 is mutated in Rett syndrome variant with infantile spasmsQ35447640
Methyl-CpG-binding protein 2 (MECP2) mutation type is associated with disease severity in Rett syndromeQ35492500
Autism Spectrum Disorder and Epilepsy: Two Sides of the Same Coin?Q36289317
Conformational complexity of G-protein-coupled receptorsQ36880905
Modeling human neurodevelopmental disorders in the Xenopus tadpole: from mechanisms to therapeutic targetsQ37137731
Specific mutations in methyl-CpG-binding protein 2 confer different severity in Rett syndrome.Q37181805
Allosteric modulators of GPCRs: a novel approach for the treatment of CNS disordersQ37360436
Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.Q37410689
The contribution of GABAergic dysfunction to neurodevelopmental disordersQ37868164
GABAB receptors-associated proteins: potential drug targets in neurological disorders?Q37948924
Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Q38045465
Dravet syndrome--from epileptic encephalopathy to channelopathyQ38212437
The genetic landscape of the epileptic encephalopathies of infancy and childhood.Q38644331
Role of GABA(B) receptors in learning and memory and neurological disordersQ38713022
GeneMatcher: a matching tool for connecting investigators with an interest in the same geneQ40250282
Point mutations in either subunit of the GABAB receptor confer constitutive activity to the heterodimerQ40254677
Rett syndrome: Criteria for inclusion and exclusionQ40562627
Differential effects of GABAB receptor subtypes, {gamma}-hydroxybutyric Acid, and Baclofen on EEG activity and sleep regulationQ42852534
P433issue3
P921main subjectRett syndromeQ917357
P304page(s)466-478
P577publication date2017-08-30
P1433published inAnnals of NeurologyQ564414
P1476titleGABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy
P478volume82

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cites work (P2860)
Q91841215AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
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Q93039415Genomic profiling of 553 uncharacterized neurodevelopment patients reveals a high proportion of recessive pathogenic variant carriers in an outbred population
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