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De novo KCNT1 mutations in early-onset epileptic encephalopathy.
- Published in:
- Epilepsia (Series 4), 2015, v. 56, n. 9, p. e121, doi. 10.1111/epi.13072
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- Publication type:
- Article
GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.
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- Epilepsia (Series 4), 2015, v. 56, n. 6, p. 841, doi. 10.1111/epi.12987
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- Publication type:
- Article
Targeted capture and sequencing for detection of mutations causing early onset epileptic encephalopathy.
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- Epilepsia (Series 4), 2013, v. 54, n. 7, p. 1262, doi. 10.1111/epi.12203
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- Publication type:
- Article
Acute encephalopathy in children with Dravet syndrome.
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- Epilepsia (Series 4), 2012, v. 53, n. 1, p. 79, doi. 10.1111/j.1528-1167.2011.03311.x
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- Publication type:
- Article
Stiripentol open study in Japanese patients with Dravet syndrome.
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- Epilepsia (Series 4), 2009, v. 50, n. 11, p. 2362, doi. 10.1111/j.1528-1167.2009.02179.x
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- Publication type:
- Article
Magnetoencephalography in Patients with Tuberous Sclerosis and Localization-related Epilepsy.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, n. 6, p. 991, doi. 10.1111/j.1528-1167.2006.00511.x
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- Publication type:
- Article
Single and Multiple Clusters of Magnetoencephalographic Dipoles in Neocortical Epilepsy: Significance in Characterizing the Epileptogenic Zone.
- Published in:
- Epilepsia (Series 4), 2006, v. 47, n. 2, p. 355, doi. 10.1111/j.1528-1167.2006.00428.x
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- Publication type:
- Article
A Magnetoencephalographic Study of Patients with Panayiotopoulos Syndrome.
- Published in:
- Epilepsia (Series 4), 2005, v. 46, n. 7, p. 1106, doi. 10.1111/j.1528-1167.2005.01105.x
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- Publication type:
- Article
Elderly-onset hereditary pulmonary alveolar proteinosis and its cytokine profile.
- Published in:
- 2017
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- Publication type:
- journal article
Amelioration of a neurodevelopmental disorder by carbamazepine in a case having a gain-of-function GRIA3 variant.
- Published in:
- Human Genetics, 2022, v. 141, n. 2, p. 283, doi. 10.1007/s00439-021-02416-7
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- Publication type:
- Article
SPTAN1 encephalopathy: distinct phenotypes and genotypes.
- Published in:
- Journal of Human Genetics, 2015, v. 60, n. 4, p. 167, doi. 10.1038/jhg.2015.5
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- Publication type:
- Article
A girl with West syndrome and autistic features harboring a de novo TBL1XR1 mutation.
- Published in:
- Journal of Human Genetics, 2014, v. 59, n. 10, p. 581, doi. 10.1038/jhg.2014.71
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- Publication type:
- Article
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
- Published in:
- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-22389-5
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- Publication type:
- Article
De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy.
- Published in:
- Nature Genetics, 2008, v. 40, n. 6, p. 782, doi. 10.1038/ng.150
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- Publication type:
- Article
Evaluation of tumor recurrence after superselective conventional transcatheter arterial chemoembolization for hepatocellular carcinoma: Comparison of computed tomography and gadoxetate disodium-enhanced magnetic resonance imaging.
- Published in:
- Hepatology Research, 2016, v. 46, n. 9, p. 890, doi. 10.1111/hepr.12632
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- Publication type:
- Article
Efficacy of automated tumor-feeder detection software using cone-beam computed tomography technology in transarterial embolization through extrahepatic collateral vessels for malignant hepatic tumors.
- Published in:
- Hepatology Research, 2016, v. 46, n. 2, p. 166, doi. 10.1111/hepr.12556
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- Publication type:
- Article
Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child.
- Published in:
- 2015
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- Publication type:
- Case Study
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
- Published in:
- Nature Communications, 2019, v. 10, n. 1, p. N.PAG, doi. 10.1038/s41467-019-10482-9
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- Publication type:
- Article
Development of a New Resilience Scale for Parents of Children with Profound Intellectual and Multiple Disabilities --Some Evidence of Reliability and Validity--.
- Published in:
- Japanese Journal of Hygiene / Nihon Eiseigaku Zasshi, 2019, v. 74, p. 1, doi. 10.1265/jjh.18025
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- Publication type:
- Article
A 16q12.2q21 deletion identified in a patient with developmental delay, epilepsy, short stature, and distinctive features.
- Published in:
- Congenital Anomalies, 2016, v. 56, n. 6, p. 253, doi. 10.1111/cga.12172
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- Publication type:
- Article
Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene.
- Published in:
- Congenital Anomalies, 2014, v. 54, n. 4, p. 243, doi. 10.1111/cga.12069
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- Publication type:
- Article
Recurrence rates and risk factors for seizure recurrence following antiseizure medication withdrawal in adolescent patients with genetic generalized epilepsy.
- Published in:
- Epilepsia Open, 2022, v. 7, n. 2, p. 332, doi. 10.1002/epi4.12603
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- Publication type:
- Article
Different pharmacoresistance of focal epileptic spasms, generalized epileptic spasms, and generalized epileptic spasms combined with focal seizures.
- Published in:
- Epilepsia Open, 2022, v. 7, n. 1, p. 85, doi. 10.1002/epi4.12560
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- Publication type:
- Article
An integrated genetic analysis of epileptogenic brain malformed lesions.
- Published in:
- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01532-x
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- Publication type:
- Article
Sirolimus for epileptic seizures associated with focal cortical dysplasia type II.
- Published in:
- Annals of Clinical & Translational Neurology, 2022, v. 9, n. 2, p. 181, doi. 10.1002/acn3.51505
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- Publication type:
- Article
<italic>De novo</italic> variants in <italic>CAMK2A</italic> and <italic>CAMK2B</italic> cause neurodevelopmental disorders.
- Published in:
- Annals of Clinical & Translational Neurology, 2018, v. 5, n. 3, p. 280, doi. 10.1002/acn3.528
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- Publication type:
- Article
Somatic mutations in GLI3 and OFD1 involved in sonic hedgehog signaling cause hypothalamic hamartoma.
- Published in:
- Annals of Clinical & Translational Neurology, 2016, v. 3, n. 5, p. 356, doi. 10.1002/acn3.300
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- Publication type:
- Article
GRIN2D variants in three cases of developmental and epileptic encephalopathy.
- Published in:
- Clinical Genetics, 2018, v. 94, n. 6, p. 538, doi. 10.1111/cge.13454
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- Publication type:
- Article
Schaaf-Yang syndrome shows a Prader-Willi syndrome-like phenotype during infancy.
- Published in:
- 2019
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- Publication type:
- journal article
Somatic Mutations in the MTOR gene cause focal cortical dysplasia type IIb.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 3, p. 375, doi. 10.1002/ana.24444
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- Publication type:
- Article
Neuropsychiatric Disorder Associated with Group G Streptococcus Infection.
- Published in:
- Case Reports in Pediatrics, 2018, p. 1, doi. 10.1155/2018/6047318
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- Publication type:
- Article
Corrigendum to “Niemann-Pick Disease Type C Presenting as a Developmental Coordination Disorder with Bullying by Peers in a School-Age Child”.
- Published in:
- 2017
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- Publication type:
- Correction Notice
Waardenburg syndrome type IIE in a Japanese patient caused by a novel non‐frame‐shift duplication mutation in the <italic>SOX10</italic> gene.
- Published in:
- Journal of Dermatology, 2018, v. 45, n. 5, p. e110, doi. 10.1111/1346-8138.14151
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- Publication type:
- Article
A severe case of cardiospondylocarpofacial syndrome with a novel MAP3K7 variant.
- Published in:
- Human Genome Variation, 2024, v. 11, n. 1, p. 1, doi. 10.1038/s41439-024-00265-0
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- Publication type:
- Article
The HCN1 p.Ser399Pro variant causes epileptic encephalopathy with super-refractory status epilepticus.
- Published in:
- Human Genome Variation, 2023, v. 10, n. 1, p. 1, doi. 10.1038/s41439-023-00247-8
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- Publication type:
- Article
West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 10, p. 2584, doi. 10.1002/ajmg.a.34224
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- Publication type:
- Article
Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient.
- Published in:
- American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 1, p. 130, doi. 10.1002/ajmg.a.33652
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- Publication type:
- Article
Acquired Opercular Epilepsy With Oromotor Dysfunction: Magnetoencephalographic Analysis and Efficacy of Corticosteroid Therapy.
- Published in:
- 2011
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- Publication type:
- Case Study
De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy.
- Published in:
- Human Mutation, 2021, v. 42, n. 1, p. 66, doi. 10.1002/humu.24130
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- Publication type:
- Article
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia.
- Published in:
- Human Mutation, 2006, v. 27, n. 4, p. 343, doi. 10.1002/humu.20293
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- Publication type:
- Article
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1191, doi. 10.1093/hmg/10.11.1191
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- Publication type:
- Article
A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.
- Published in:
- Human Molecular Genetics, 2001, v. 10, n. 11, p. 1191, doi. 10.1093/hmg/10.11.1191
- By:
- Publication type:
- Article
Paradoxical influence of acid β -galactosidase gene dosage on phenotype of the twitcher mouse (genetic galactosylceramidase deficiency).
- Published in:
- Human Molecular Genetics, 2000, v. 9, n. 11, p. 1699, doi. 10.1093/hmg/9.11.1699
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- Publication type:
- Article
A novel point mutation in the mitochondrial tRNA<sup>Leu(UUR)</sup> gene in a family with mitochondrial myopathy.
- Published in:
- Annals of Neurology, 1992, v. 31, n. 6, p. 672, doi. 10.1002/ana.410310617
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- Publication type:
- Article