Detalhe da pesquisa
1.
Pathogenic MTOR somatic variant causing focal cortical dysplasia drives hyperexcitability via overactivation of neuronal GluN2C N-methyl-D-aspartate receptors.
Epilepsia
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38717560
2.
Impaired vocal communication, sleep-related discharges, and transient alteration of slow-wave sleep in developing mice lacking the GluN2A subunit of N-methyl-d-aspartate receptors.
Epilepsia
; 60(7): 1424-1437, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-31158310
3.
New insights into the genetics of stuttering.
Brain
; 146(12): 4788-4790, 2023 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37987612
4.
Transient microstructural brain anomalies and epileptiform discharges in mice defective for epilepsy and language-related NMDA receptor subunit gene Grin2a.
Epilepsia
; 59(10): 1919-1930, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-30146685
5.
Severe phenotypic spectrum of biallelic mutations in PRRT2 gene.
J Neurol Neurosurg Psychiatry
; 86(7): 782-5, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25595153
6.
A subset of genomic alterations detected in rolandic epilepsies contains candidate or known epilepsy genes including GRIN2A and PRRT2.
Epilepsia
; 55(2): 370-8, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24372385
7.
Tubacin prevents neuronal migration defects and epileptic activity caused by rat Srpx2 silencing in utero.
Brain
; 136(Pt 8): 2457-73, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23831613
8.
An SCN2A mutation in a family with infantile seizures from Madagascar reveals an increased subthreshold Na(+) current.
Epilepsia
; 54(9): e117-21, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23758435
9.
A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.
Hum Mol Genet
; 19(24): 4895-905, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20876615
10.
Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex.
Hum Mol Genet
; 19(24): 4848-60, 2010 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-20858596
11.
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link with autism.
Epilepsia
; 53(9): 1526-38, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22738016
12.
Epileptic and developmental disorders of the speech cortex: ligand/receptor interaction of wild-type and mutant SRPX2 with the plasminogen activator receptor uPAR.
Hum Mol Genet
; 17(23): 3617-30, 2008 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18718938
13.
Sushi repeat protein X-linked 2, a novel mediator of angiogenesis.
FASEB J
; 23(12): 4105-16, 2009 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19667118
14.
Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease.
Epilepsia
; 51(9): 1691-8, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20738377
15.
Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome.
Epileptic Disord
; 12(3): 199-204, 2010 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-20716510
16.
The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium Channel.
Front Cell Neurosci
; 14: 1, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32038177
17.
From rolandic epilepsy to continuous spike-and-waves during sleep and Landau-Kleffner syndromes: insights into possible genetic factors.
Epilepsia
; 50 Suppl 7: 25-8, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19682046
18.
Epilepsy and mental retardation limited to females: an under-recognized disorder.
Brain
; 131(Pt 4): 918-27, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18234694
19.
Update on the genetics of the epilepsy-aphasia spectrum and role of GRIN2A mutations.
Epileptic Disord
; 21(S1): 41-47, 2019 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31149903
20.
Nuclear localization of a novel human syntaxin 1B isoform.
Gene
; 423(2): 160-71, 2008 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-18691641