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CUX2 deficiency causes facilitation of excitatory synaptic transmission onto hippocampus and increased seizure susceptibility to kainate.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-10715-w
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- Publication type:
- Article
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
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- Clinical Genetics, 2017, v. 92, n. 2, p. 180, doi. 10.1111/cge.12991
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- Publication type:
- Article
CDKL5 alterations lead to early epileptic encephalopathy in both genders.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 10, p. 1835, doi. 10.1111/j.1528-1167.2011.03174.x
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- Publication type:
- Article
Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome.
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- Epilepsia (Series 4), 2011, v. 52, n. 6, p. 1144, doi. 10.1111/j.1528-1167.2011.03053.x
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- Publication type:
- Article
Mortality in Dravet syndrome: Search for risk factors in Japanese patients.
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- Epilepsia (Series 4), 2011, v. 52, p. 50, doi. 10.1111/j.1528-1167.2011.03002.x
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- Publication type:
- Article
Borderline Dravet syndrome: A useful diagnostic category?
- Published in:
- Epilepsia (Series 4), 2011, v. 52, p. 10, doi. 10.1111/j.1528-1167.2011.02995.x
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- Publication type:
- Article
STXBP1 mutations cause not only Ohtahara syndrome but also West syndrome-Result of Japanese cohort study.
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- Epilepsia (Series 4), 2010, v. 51, n. 12, p. 2449, doi. 10.1111/j.1528-1167.2010.02767.x
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- Publication type:
- Article
Stiripentol open study in Japanese patients with Dravet syndrome.
- Published in:
- 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
Differentiation of myoclonic seizures in epileptic syndromes: A video-polygraphic study of 26 patients.
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- Epilepsia (Series 4), 2009, v. 50, n. 6, p. 1525, doi. 10.1111/j.1528-1167.2008.01859.x
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- Publication type:
- Article
Microchromosomal deletions involving SCN1A and adjacent genes in severe myoclonic epilepsy in infancy.
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- Epilepsia (Series 4), 2008, v. 49, n. 9, p. 1528, doi. 10.1111/j.1528-1167.2008.01609.x
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- Publication type:
- Article
Autonomic Status Epilepticus in Panayiotopoulos Syndrome and Other Childhood and Adult Epilepsies: A Consensus View.
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- Epilepsia (Series 4), 2007, v. 48, n. 6, p. 1165, doi. 10.1111/j.1528-1167.2007.01087.x
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- Publication type:
- Article
Symptomatic Epilepsies Imitating Idiopathic Generalized Epilepsies.
- Published in:
- Epilepsia (Series 4), 2005, v. 46, p. 84, doi. 10.1111/j.1528-1167.2005.00318.x
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- Publication type:
- Article
Effect of ACTH Therapy for Epileptic Spasms without Hypsarrhythmia.
- Published in:
- Epilepsia (Series 4), 2005, v. 46, n. 5, p. 709, doi. 10.1111/j.1528-1167.2005.37504.x
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- Publication type:
- Article
Diagnosis and Treatment of Epilepsy.
- Published in:
- Epilepsia (Series 4), 2004, v. 45, p. 13, doi. 10.1111/j.0013-9580.2004.458003.x
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- Publication type:
- Article
Mutations of Neuronal Voltage-gated Na<sup>+</sup> Channel α1 Subunit Gene SCN1A in Core Severe Myoclonic Epilepsy in Infancy (SMEI) and in Borderline SMEI (SMEB).
- Published in:
- Epilepsia (Series 4), 2004, v. 45, n. 2, p. 140, doi. 10.1111/j.0013-9580.2004.15103.x
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- Publication type:
- Article
Rasmussen Syndrome: Multifocal Spread of Inflammation Suggested from MRI and PET Findings.
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- Epilepsia (Series 4), 2003, v. 44, n. 8, p. 1118, doi. 10.1046/j.1528-1157.2003.67602.x
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- Publication type:
- Article
EEG in Children with Early-onset Benign Occipital Seizure Susceptibility Syndrome: Panayiotopoulos Syndrome.
- Published in:
- Epilepsia (Series 4), 2003, v. 44, n. 3, p. 435, doi. 10.1046/j.1528-1157.2003.47702.x
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- Publication type:
- Article
Study on Photo-Pattern Sensitivity in Patients with Electronic Screen Game–Induced Seizures (ESGS): Effects of Spatial Resolution, Brightness, and Pattern Movement.
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- Epilepsia (Series 4), 2001, v. 42, n. 9, p. 1185, doi. 10.1046/j.1528-1157.2001.26000.x
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- Publication type:
- Article
A Study of the Effect of Color Photostimulation from a Cathode-ray Tube (CRT) Display on Photosensitive Patients: The Effect of Alternating Red–Cyan Flicker Stimulation.
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- Epilepsia (Series 4), 2001, v. 42, n. 7, p. 922, doi. 10.1046/j.1528-1157.2001.042007922.x
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- Publication type:
- Article
Book Review.
- Published in:
- 2003
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- Publication type:
- Book Review
A cryptic microdeletion including MBD5 occurring within the breakpoint of a reciprocal translocation between chromosomes 2 and 5 in a patient with developmental delay and obesity.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 4, p. 850, doi. 10.1002/ajmg.a.35768
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- Publication type:
- Article
Identification of <i>ATP1A3</i> Mutations by Exome Sequencing as the Cause of Alternating Hemiplegia of Childhood in Japanese Patients.
- Published in:
- PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056120
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- Publication type:
- Article
A modified Atkins diet is promising as a treatment for glucose transporter type 1 deficiency syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2011, v. 53, n. 7, p. 658, doi. 10.1111/j.1469-8749.2011.03961.x
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- Publication type:
- Article
Aromaticl-amino acid decarboxylase deficiency associated with epilepsy mimicking non-epileptic involuntary movements.
- Published in:
- Developmental Medicine & Child Neurology, 2008, v. 50, n. 11, p. 876, doi. 10.1111/j.1469-8749.2008.03094.x
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- Publication type:
- Article
Panayiotopoulos syndrome: a consensus view.
- Published in:
- Developmental Medicine & Child Neurology, 2006, v. 48, n. 3, p. 236, doi. 10.1017/S0012162206000508
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- Publication type:
- Article
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group.
- Published in:
- Epilepsia Open, 2020, v. 5, n. 3, p. 354, doi. 10.1002/epi4.12414
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- Publication type:
- Article
What is Lennox-Gastaut syndrome in the modern era?
- Published in:
- Neurology Asia, 2010, v. 15, n. S1, p. 9
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- Publication type:
- Article
Differentiating non‐epileptic seizures from epileptic seizures in Glut1 deficiency syndrome.
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- Developmental Medicine & Child Neurology, 2024, v. 66, n. 11, p. 1466, doi. 10.1111/dmcn.15942
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- Publication type:
- Article
Neuropsychological study of localization-related epilepsy in children.
- Published in:
- Psychiatry & Clinical Neurosciences, 1995, v. 49, n. 3, p. S270, doi. 10.1111/j.1440-1819.1995.tb02203.x
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- Publication type:
- Article
A Video-EEG Study of Astatic Seizures Observed in Patients with Myoclonic Astatic Epilepsy of Early Childhood (Doose Syndrome).
- Published in:
- Psychiatry & Clinical Neurosciences, 1991, v. 45, n. 2, p. 380, doi. 10.1111/j.1440-1819.1991.tb02495.x
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- Publication type:
- Article
Clinical and Electroencephalographic Study of Severe Myoclonic Epilepsy in Infancy (Dravet).
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- Psychiatry & Clinical Neurosciences, 1987, v. 41, n. 3, p. 463, doi. 10.1111/j.1440-1819.1987.tb01729.x
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- Publication type:
- Article
Pathogenesis of Epilepsy in Childhood.
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- Psychiatry & Clinical Neurosciences, 1986, v. 40, n. 3, p. 293, doi. 10.1111/j.1440-1819.1986.tb03150.x
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- Publication type:
- Article
Ictal Vomiting as an Initial Symptom of Severe Myoclonic Epilepsy in Infancy: A Case Report.
- Published in:
- Journal of Child Neurology, 2009, v. 24, n. 2, p. 228, doi. 10.1177/0883073808327839
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- Publication type:
- Article
Mowat-Wilson Syndrome Affecting 3 Siblings.
- Published in:
- Journal of Child Neurology, 2008, v. 23, n. 3, p. 274, doi. 10.1177/0883073807309231
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- Publication type:
- Article
Epilepsy and Intellectual and Developmental Disabilities.
- Published in:
- Journal of Policy & Practice in Intellectual Disabilities, 2013, v. 10, n. 2, p. 89, doi. 10.1111/jppi.12035
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- Publication type:
- Article
Mutational analysis of CACNA1G in idiopathic generalized epilepsy.
- Published in:
- Human Mutation, 2007, v. 28, n. 5, p. 524, doi. 10.1002/humu.9491
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- Publication type:
- Article
Anterior callosotomy in the treatment of medically intractable epilepsies: A study of 43 patients with a mean follow-up of 39 months.
- Published in:
- Annals of Neurology, 1991, v. 30, n. 3, p. 357, doi. 10.1002/ana.410300307
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- Publication type:
- Article
Recurrent NUS1 canonical splice donor site mutation in two unrelated individuals with epilepsy, myoclonus, ataxia and scoliosis - a case report.
- Published in:
- 2019
- By:
- Publication type:
- journal article