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Atypical Vitamin B6 Deficiency: A Rare Cause of Unexplained Neonatal and Infantile Epilepsies.
- Published in:
- Journal of Child Neurology, 2014, v. 29, n. 5, p. 704, doi. 10.1177/0883073813505354
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- Publication type:
- Article
Seizure control and treatment changes in pregnancy: Observations from the EURAP epilepsy pregnancy registry.
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- Epilepsia (Series 4), 2013, v. 54, n. 9, p. 1621, doi. 10.1111/epi.12302
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- Publication type:
- Article
Genome-wide linkage meta-analysis identifies susceptibility loci at 2q34 and 13q31.3 for genetic generalized epilepsies.
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- Epilepsia (Series 4), 2012, v. 53, n. 2, p. 308, doi. 10.1111/j.1528-1167.2011.03379.x
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- Publication type:
- Article
A retrospective population-based study on seizures related to childhood vaccination.
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- Epilepsia (Series 4), 2011, v. 52, n. 8, p. 1506, doi. 10.1111/j.1528-1167.2011.03134.x
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- Publication type:
- Article
Adults with a history of possible Dravet syndrome: An illustration of the importance of analysis of the SCN1A gene.
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- Epilepsia (Series 4), 2011, v. 52, n. 4, p. e23, doi. 10.1111/j.1528-1167.2011.02982.x
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- Publication type:
- Article
Drug monitoring of lamotrigine and oxcarbazepine combination during pregnancy.
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- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2500, doi. 10.1111/j.1528-1167.2010.02771.x
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- Publication type:
- Article
Pregnancy registries: Differences, similarities, and possible harmonization.
- Published in:
- 2010
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- Publication type:
- Report
Hippocampal Na<sub>v</sub>β3 expression in patients with temporal lobe epilepsy.
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- Epilepsia (Series 4), 2009, v. 50, n. 4, p. 957, doi. 10.1111/j.1528-1167.2008.02015.x
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- Publication type:
- Article
Possible role of the innate immunity in temporal lobe epilepsy.
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- Epilepsia (Series 4), 2008, v. 49, n. 6, p. 1055, doi. 10.1111/j.1528-1167.2007.01470.x
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- Publication type:
- Article
Association Analysis of BRD2 (RING3) and Epilepsy in a Dutch Population.
- Published in:
- 2007
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- Publication type:
- Letter
Heterogeneity at the JME 6p11–12 Locus: Absence of Mutations in the EFHC1 Gene in Linked Dutch Families.
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- Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1743, doi. 10.1111/j.1528-1167.2006.00676.x
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- Publication type:
- Article
Exploration of the Genetic Architecture of Idiopathic Generalized Epilepsies.
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- Epilepsia (Series 4), 2006, v. 47, n. 10, p. 1682, doi. 10.1111/j.1528-1167.2006.00677.x
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- Publication type:
- Article
A Novel Splicing Mutation in KCNQ2 in a Multigenerational Family with BFNC Followed for 25 Years.
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- Epilepsia (Series 4), 2006, v. 47, n. 5, p. 851, doi. 10.1111/j.1528-1167.2006.00552.x
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- Publication type:
- Article
Monozygous Twin Brothers Discordant for Photosensitive Epilepsy: First Report of Possible Visual Priming in Humans.
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- Epilepsia (Series 4), 2005, v. 46, n. 9, p. 1545, doi. 10.1111/j.1528-1167.2005.44104.x
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- Publication type:
- Article
EURAP: An International Registry of Antiepileptic Drugs and Pregnancy.
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- Epilepsia (Series 4), 2004, v. 45, n. 11, p. 1463, doi. 10.1111/j.0013-9580.2004.451101.x
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- Publication type:
- Article
Univerricht-Lundborg Disease: Underdiagnosed in the Netherlands.
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- Epilepsia (Series 4), 2004, v. 45, n. 9, p. 1061, doi. 10.1111/j.0013-9580.2004.43703.x
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- Publication type:
- Article
Evidence for Linkage between Juvenile Myoclonic Epilepsy–Related Idiopathic Generalized Epilepsy and 6p11-12 in Dutch Families.
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- Epilepsia (Series 4), 2004, v. 45, n. 3, p. 211, doi. 10.1111/j.0013-9580.2004.36003.x
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- Publication type:
- Article
Genetics of Photosensitivity (Photoparoxysmal Response): A Review.
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- Epilepsia (Series 4), 2004, v. 45, p. 19, doi. 10.1111/j.0013-9580.2004.451008.x
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- Publication type:
- Article
Familial Partial Epilepsy with Variable Foci in a Dutch Family: Clinical Characteristics and Confirmation of Linkage to Chromosome 22q.
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- Epilepsia (Series 4), 2003, v. 44, n. 10, p. 1298, doi. 10.1046/j.1528-1157.2003.62302.x
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- Publication type:
- Article
Novel SCN1A mutations in Indonesian patients with severe myoclonic epilepsy in infancy.
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- Pediatrics International, 2010, v. 52, n. 2, p. 234, doi. 10.1111/j.1442-200X.2009.02916.x
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- Publication type:
- Article
Familial endometrial cancer in female carriers of MSH6 germline mutations.
- Published in:
- Nature Genetics, 1999, v. 23, n. 2, p. 142, doi. 10.1038/13773
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- Publication type:
- Article
Prenatal diagnosis of spina bifida aperta after first-trimester valproate exposure.
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- 1992
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- Publication type:
- journal article
Prenatal ultrasonographic diagnosis of radial-ray reduction malformations.
- Published in:
- 1990
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- Publication type:
- journal article
Prevalence of <i>SCN1A</i>-Related Dravet Syndrome among Children Reported with Seizures following Vaccination: A Population-Based Ten-Year Cohort Study.
- Published in:
- PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0065758
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- Publication type:
- Article
The MSX1 allele 4 homozygous child exposed to smoking at periconception is most sensitive in developing nonsyndromic orofacial clefts.
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- Human Genetics, 2008, v. 124, n. 5, p. 525, doi. 10.1007/s00439-008-0569-6
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- Publication type:
- Article
Favourable mutation test outcomes for individuals at risk for Huntington disease change the perspectives of first-degree relatives.
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- Human Genetics, 2002, v. 111, n. 3, p. 297, doi. 10.1007/s00439-002-0764-9
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- Publication type:
- Article
Structural genomic variation in childhood epilepsies with complex phenotypes.
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- European Journal of Human Genetics, 2014, v. 22, n. 7, p. 896, doi. 10.1038/ejhg.2013.262
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- Publication type:
- Article
Incomplete segregation of MYH11 variants with thoracic aortic aneurysms and dissections and patent ductus arteriosus.
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- European Journal of Human Genetics, 2013, v. 21, n. 5, p. 487, doi. 10.1038/ejhg.2012.206
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- Publication type:
- Article
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
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- European Journal of Human Genetics, 2005, v. 13, n. 2, p. 208, doi. 10.1038/sj.ejhg.5201300
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- Publication type:
- Article
Loss of lysosomal association of cystatin B proteins representing progressive myoclonus epilepsy, EPM1, mutations.
- Published in:
- 2005
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- Publication type:
- Correction Notice
Analysis of TSC2 stop codon variants found in tuberous sclerosis patients.
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- European Journal of Human Genetics, 2001, v. 9, n. 11, p. 823, doi. 10.1038/sj.ejhg.5200728
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- Publication type:
- Article
A Rett syndrome patient with a ring X chromosome: further evidence for skewing of X inactivation and heterogeneity in the aetiology of the disease.
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- European Journal of Human Genetics, 2001, v. 9, n. 3, p. 171, doi. 10.1038/sj.ejhg.5200604
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- Publication type:
- Article
A genome‐wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine.
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- Epilepsia Open, 2019, v. 4, n. 1, p. 102, doi. 10.1002/epi4.12297
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- Publication type:
- Article
Association Study of TRPC4 as a Candidate Gene for Generalized Epilepsy with Photosensitivity.
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- NeuroMolecular Medicine, 2010, v. 12, n. 3, p. 292, doi. 10.1007/s12017-010-8122-x
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- Publication type:
- Article
Symptomatology of carbamazepine‐ and oxcarbazepine‐induced hyponatremia in people with epilepsy.
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- Epilepsia (Series 4), 2021, v. 62, n. 3, p. 778, doi. 10.1111/epi.16828
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- Publication type:
- Article
Behavioral problems in children of mothers with epilepsy prenatally exposed to valproate, carbamazepine, lamotrigine, or levetiracetam monotherapy.
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- Epilepsia (Series 4), 2019, v. 60, n. 6, p. 1069, doi. 10.1111/epi.15968
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- Publication type:
- Article
Carbamazepine- and oxcarbazepine-induced hyponatremia in people with epilepsy.
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- Epilepsia (Series 4), 2017, v. 58, n. 7, p. 1227, doi. 10.1111/epi.13777
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- Publication type:
- Article
Withdrawal of valproic acid treatment during pregnancy and seizure outcome: Observations from EURAP.
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- Epilepsia (Series 4), 2016, v. 57, n. 8, p. e173, doi. 10.1111/epi.13437
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- Publication type:
- Article
Genetic risk estimation by health care professionals.
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- Medical Journal of Australia, 2005, v. 182, n. 11, p. 596, doi. 10.5694/j.1326-5377.2005.tb06829.x
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- Publication type:
- Article
Genetic risk estimation by healthcare professionals.
- Published in:
- Medical Journal of Australia, 2005, v. 182, n. 3, p. 116, doi. 10.5694/j.1326-5377.2005.tb06610.x
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- Publication type:
- Article
Neurocognition after prenatal levetiracetam, lamotrigine, carbamazepine or valproate exposure.
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- Journal of Neurology, 2020, v. 267, n. 6, p. 1724, doi. 10.1007/s00415-020-09764-w
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- Publication type:
- Article
Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.
- Published in:
- Human Molecular Genetics, 2012, v. 21, n. 24, p. 5359
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- Publication type:
- Article
A pre-visit tailored website enhances counselees' realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling.
- Published in:
- Familial Cancer, 2012, v. 11, n. 1, p. 85, doi. 10.1007/s10689-011-9479-1
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- Publication type:
- Article
Na<sub>v</sub>1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.
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- European Journal of Neuroscience, 2011, v. 34, n. 8, p. 1268, doi. 10.1111/j.1460-9568.2011.07826.x
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- Publication type:
- Article
Copy Number Variations in Patients With Electrical Status Epilepticus in Sleep.
- Published in:
- Journal of Child Neurology, 2012, v. 27, n. 2, p. 178, doi. 10.1177/0883073811416006
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- Publication type:
- Article
Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies.
- Published in:
- PLoS Genetics, 2015, v. 11, n. 5, p. 1, doi. 10.1371/journal.pgen.1005226
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- Publication type:
- Article
A New Coding System for Metabolic Disorders Demonstrates Gaps in the International Disease Classifications ICD-10 and SNOMED- CT, Which Can Be Barriers to Genotype-Phenotype Data Sharing.
- Published in:
- Human Mutation, 2013, v. 34, n. 7, p. 967, doi. 10.1002/humu.22316
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- Publication type:
- Article
Genome-wide linkage scan of epilepsy-related photoparoxysmal electroencephalographic response: evidence for linkage on chromosomes 7q32 and 16p13.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 1, p. 171, doi. 10.1093/hmg/ddi018
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- Publication type:
- Article
Antiepileptic drug regimens and major congenital abnormalities in the offspring.
- Published in:
- Annals of Neurology, 1999, v. 46, n. 5, p. 739, doi. 10.1002/1531-8249(199911)46:5<739::AID-ANA9>3.0.CO;2-2
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- Publication type:
- Article
MSH2 genomic deletions are a frequent cause of HNPCC.
- Published in:
- Nature Genetics, 1998, v. 20, n. 4, p. 326, doi. 10.1038/3795
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- Publication type:
- Article