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Progressive cerebellar degenerative changes in the severe mental retardation syndrome caused by duplication of MECP2 and adjacent loci on Xq28.
- Published in:
- 2010
- By:
- Publication type:
- journal article
FARS2 Causing Complex Hereditary Spastic Paraplegia With Dysphonia: Expanding the Disease Spectrum.
- Published in:
- Journal of Child Neurology, 2019, v. 34, n. 10, p. 621, doi. 10.1177/0883073819846805
- By:
- Publication type:
- Article
EXOSC3 mutations in pontocerebellar hypoplasia type 1: novel mutations and genotype-phenotype correlations.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/1750-1172-9-23
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- Publication type:
- Article
Clinical spectrum and genotype-phenotype associations of KCNA2-related encephalopathies.
- Published in:
- 2017
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- Publication type:
- journal article
Unexplained early onset epileptic encephalopathy: Exome screening and phenotype expansion.
- Published in:
- Epilepsia (Series 4), 2016, v. 57, n. 1, p. e12, doi. 10.1111/epi.13250
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- Publication type:
- Article
The variable phenotypes of KCNQ-related epilepsy.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 9, p. e99, doi. 10.1111/epi.12715
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- Publication type:
- Article
Towards the identification of a genetic basis for Landau- Kleffner syndrome.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 6, p. 858, doi. 10.1111/epi.12645
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- Publication type:
- Article
Malignant Refractory Epilepsy in Identical Twins Mosaic for a Supernumerary Ring Chromosome 19.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 8, p. 997, doi. 10.1111/j.0013-9580.2004.00304.x
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- Publication type:
- Article
Leukoencephalopathy with Anterior Temporal Cysts Due to Congenital CMV Infection Diagnosed Retrospectively.
- Published in:
- Journal of Neuroimaging, 2010, v. 20, n. 3, p. 292, doi. 10.1111/j.1552-6569.2008.00301.x
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- Publication type:
- Article
Seizure-Induced Inflammation in Focal Cortical Dysplasia Resulting in Imaging Progression That Simulates Neoplasia.
- Published in:
- Journal of Neuroimaging, 2010, v. 20, n. 2, p. 208, doi. 10.1111/j.1552-6569.2008.00342.x
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- Publication type:
- Article
Neurodevelopmental outcome in survivors of hypoxic ischemic encephalopathy without cerebral palsy.
- Published in:
- 2018
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- Publication type:
- journal article
Status dystonicus in two patients with SOX2-anophthalmia syndrome and nonsense mutations.
- Published in:
- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 11, p. 3048, doi. 10.1002/ajmg.a.37849
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- Publication type:
- Article
Excellent outcome with de novo 15q13.3 microdeletion causing infantile spasms-A further patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 7, p. 1863, doi. 10.1002/ajmg.a.36532
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- Publication type:
- Article
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.
- Published in:
- Nature Genetics, 2015, v. 47, n. 1, p. 39, doi. 10.1038/ng.3144
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- Publication type:
- Article
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection.
- Published in:
- Nature Genetics, 2006, v. 38, n. 8, p. 910, doi. 10.1038/ng1842
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- Publication type:
- Article
NAA10 mutation causing a novel intellectual disability syndrome with Long QT due to N-terminal acetyltransferase impairment.
- Published in:
- Scientific Reports, 2015, p. 16022, doi. 10.1038/srep16022
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- Publication type:
- Article
Neurological Sequelae of Toluene Abuse.
- Published in:
- Human & Experimental Toxicology, 1982, v. 1, n. 3, p. 281, doi. 10.1177/096032718200100311
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- Publication type:
- Article
Paroxysmal Movement Disorders.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.659064
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- Publication type:
- Article
Does early treatment improve outcomes in N-methyl-D-aspartate receptor encephalitis?
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 8, p. 794, doi. 10.1111/dmcn.12411
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- Publication type:
- Article
Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 7, p. 642, doi. 10.1111/dmcn.12323
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- Publication type:
- Article
Status dystonicus: a practice guide.
- Published in:
- Developmental Medicine & Child Neurology, 2014, v. 56, n. 2, p. 105, doi. 10.1111/dmcn.12339
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- Publication type:
- Article
Acquired auditory agnosia in childhood and normal sleep electroencephalography subsequently diagnosed as Landau-Kleffner syndrome: a report of three cases.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 6, p. 575, doi. 10.1111/dmcn.12025
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- Publication type:
- Article
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT2 gene mutations.
- Published in:
- 2013
- By:
- Publication type:
- journal article
Clinical features of childhood-onset paroxysmal kinesigenic dyskinesia with PRRT 2 gene mutations.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 4, p. 327, doi. 10.1111/dmcn.12056
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- Publication type:
- Article
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsy.
- Published in:
- Developmental Medicine & Child Neurology, 2013, v. 55, n. 2, p. 154, doi. 10.1111/dmcn.12030
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- Publication type:
- Article
Severe childhood encephalopathy with dyskinesia and prolonged cognitive disturbances: evidence for anti- N-methyl-d-aspartate receptor encephalitis.
- Published in:
- Developmental Medicine & Child Neurology, 2010, v. 52, n. 5, p. e78, doi. 10.1111/j.1469-8749.2009.03542.x
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- Publication type:
- Article
Guanidinoacetate methyltransferase (GAMT) deficiency: late onset of movement disorder and preserved expressive language.
- Published in:
- Developmental Medicine & Child Neurology, 2009, v. 51, n. 5, p. 404, doi. 10.1111/j.1469-8749.2008.03227.x
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- Publication type:
- Article
Atypical presentation of ataxia-oculomotor apraxia type 1.
- Published in:
- 2006
- By:
- Publication type:
- journal article
Atypical presentation of ataxia–oculomotor apraxia type 1.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 6, p. 529, doi. 10.1017/S0012162206001113
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- Publication type:
- Article
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
- Published in:
- 2009
- By:
- Publication type:
- Correction Notice
Structural variation in Xq28: MECP2 duplications in 1% of patients with unexplained XLMR and in 2% of male patients with severe encephalopathy.
- Published in:
- European Journal of Human Genetics, 2009, v. 17, n. 4, p. 444, doi. 10.1038/ejhg.2008.208
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- Publication type:
- Article
Identification of Leptomeningeal Medulloblastoma with Contrast-Enhanced Magnetic Resonance Imaging: A Devastating Differential of Acute Disseminated Encephomyelitis.
- Published in:
- 2018
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- Publication type:
- Case Study
Moyamoya disease and moyamoya syndrome in Ireland: patient demographics, mode of presentation and outcomes of EC-IC bypass surgery.
- Published in:
- Irish Journal of Medical Science, 2021, v. 190, n. 1, p. 335, doi. 10.1007/s11845-020-02280-w
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- Publication type:
- Article
Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 5, p. 1578, doi. 10.1093/brain/awt073
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- Publication type:
- Article
SGCE mutations cause psychiatric disorders: clinical and genetic characterization.
- Published in:
- Brain: A Journal of Neurology, 2013, v. 136, n. 1, p. 294, doi. 10.1093/brain/aws308
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- Publication type:
- Article
FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability.
- Published in:
- Epilepsia (Series 4), 2021, v. 62, n. 1, p. e13, doi. 10.1111/epi.16784
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- Publication type:
- Article
Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype.
- Published in:
- Epilepsia (Series 4), 2017, v. 58, n. 7, p. 1301, doi. 10.1111/epi.13794
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- Publication type:
- Article
Clinical and genetic spectrum of pyruvate dehydrogenase deficiency: Dihydrolipoamide acetyltransferase (E2) deficiency.
- Published in:
- Annals of Neurology, 2005, v. 58, n. 2, p. 234
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- Publication type:
- Article
Response to treatment and outcomes of infantile spasms in Down syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2022, v. 64, n. 6, p. 780, doi. 10.1111/dmcn.15153
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- Publication type:
- Article
Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathy.
- Published in:
- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab235
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- Publication type:
- Article
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
- Published in:
- Human Mutation, 2010, v. 31, n. 7, p. E1544, doi. 10.1002/humu.21278
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- Publication type:
- Article
An overview of L-2-hydroxyglutarate dehydrogenase gene ( L2HGDH) variants: a genotype-phenotype study.
- Published in:
- 2010
- By:
- Publication type:
- Other
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2-encephalopathy.
- Published in:
- Science Translational Medicine, 2021, v. 13, n. 609, p. 1, doi. 10.1126/scitranslmed.aaz4957
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- Publication type:
- Article
'Jerky' dystonia in children: Spectrum of phenotypes and genetic testing.
- Published in:
- Movement Disorders, 2009, v. 24, n. 5, p. 702, doi. 10.1002/mds.22426
- By:
- Publication type:
- Article