Found: 26
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Mitochondrial respiratory chain defects in skin fibroblasts from patients with Dravet syndrome.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Late-Onset Epileptic Spasms: Clinical Evidence and Outcome in 34 Patients.
- Published in:
- Journal of Child Neurology, 2015, v. 30, n. 2, p. 153, doi. 10.1177/0883073814532547
- By:
- Publication type:
- Article
Focal seizures with affective symptoms are a major feature of PCDH19 gene-related epilepsy.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 12, p. 2111, doi. 10.1111/j.1528-1167.2012.03649.x
- By:
- Publication type:
- Article
Spectrum of phenotypes in female patients with epilepsy due to protocadherin 19 mutations.
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 7, p. 1251, doi. 10.1111/j.1528-1167.2011.03063.x
- By:
- Publication type:
- Article
Idiopathic Epilepsies with Seizures Precipitated by Fever and SCN1A Abnormalities.
- Published in:
- Epilepsia (Series 4), 2007, v. 48, n. 9, p. 1678, doi. 10.1111/j.1528-1167.2007.01122.x
- By:
- Publication type:
- Article
Trehalose Treatment in Zebrafish Model of Lafora Disease.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6874, doi. 10.3390/ijms23126874
- By:
- Publication type:
- Article
Morphometric network-based abnormalities correlate with psychiatric comorbidities and gene expression in PCDH19-related developmental and epileptic encephalopathy.
- Published in:
- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02753-x
- By:
- Publication type:
- Article
Gain-of-function defects of astrocytic Kir4.1 channels in children with autism spectrum disorders and epilepsy.
- Published in:
- Scientific Reports, 2016, p. 34325, doi. 10.1038/srep34325
- By:
- Publication type:
- Article
Temporal lobe connects regression and macrocephaly to autism spectrum disorders.
- Published in:
- European Child & Adolescent Psychiatry, 2016, v. 25, n. 4, p. 421, doi. 10.1007/s00787-015-0746-9
- By:
- Publication type:
- Article
Somatic Overgrowth Predisposes to Seizures in Autism Spectrum Disorders.
- Published in:
- PLoS ONE, 2013, v. 8, n. 9, p. 1, doi. 10.1371/journal.pone.0075015
- By:
- Publication type:
- Article
Emotional and behavioral problems after pediatric liver transplantation: A quantitative assessment.
- Published in:
- Pediatric Transplantation, 2006, v. 10, n. 2, p. 205, doi. 10.1111/j.1399-3046.2005.00426.x
- By:
- Publication type:
- Article
The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine.
- Published in:
- Frontiers in Cellular Neuroscience, 2016, p. 1, doi. 10.3389/fncel.2016.00156
- By:
- Publication type:
- Article
Targeted Gene Resequencing (Astrochip) to Explore the Tripartite Synapse in Autism-Epilepsy Phenotype with Macrocephaly.
- Published in:
- NeuroMolecular Medicine, 2016, v. 18, n. 1, p. 69, doi. 10.1007/s12017-015-8378-2
- By:
- Publication type:
- Article
Expanding the clinical and genetic heterogeneity of SPAX5.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 595, doi. 10.1002/acn3.51024
- By:
- Publication type:
- Article
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52.
- Published in:
- Annals of Clinical & Translational Neurology, 2020, v. 7, n. 4, p. 584, doi. 10.1002/acn3.51018
- By:
- Publication type:
- Article
Genetically induced dysfunctions of Kir2.1 channels: implications for short QT3 syndrome and autism–epilepsy phenotype.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 18, p. 4875, doi. 10.1093/hmg/ddu201
- By:
- Publication type:
- Article
MECP2 duplication phenotype in symptomatic females: report of three further cases.
- Published in:
- Molecular Cytogenetics (17558166), 2014, v. 7, n. 1, p. 2, doi. 10.1186/1755-8166-7-10
- By:
- Publication type:
- Article
Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.
- Published in:
- PLoS ONE, 2016, v. 11, n. 3, p. 1, doi. 10.1371/journal.pone.0151148
- By:
- Publication type:
- Article
Kir4.1 Dysfunction in the Pathophysiology of Depression: A Systematic Review.
- Published in:
- Cells (2073-4409), 2021, v. 10, n. 10, p. 2628, doi. 10.3390/cells10102628
- By:
- Publication type:
- Article
Evolution of Epileptiform Activity in Zebrafish by Statistical-Based Integration of Electrophysiology and 2-Photon Ca2+ Imaging.
- Published in:
- Cells (2073-4409), 2020, v. 9, n. 3, p. 769, doi. 10.3390/cells9030769
- By:
- Publication type:
- Article
On the application of quantitative EEG for characterizing autistic brain: a systematic review.
- Published in:
- Frontiers in Human Neuroscience, 2013, v. 7, p. 1, doi. 10.3389/fnhum.2013.00442
- By:
- Publication type:
- Article
The emerging role of the inwardly rectifying K<sup>+</sup> channels in autism spectrum disorders and epilepsy.
- Published in:
- Malta Medical Journal, 2011, v. 23, n. 3, p. 1
- By:
- Publication type:
- Article
Mitochondrial epilepsy: a cross-sectional nationwide Italian survey.
- Published in:
- Neurogenetics, 2020, v. 21, n. 2, p. 87, doi. 10.1007/s10048-019-00601-5
- By:
- Publication type:
- Article
Customized multigene panels in epilepsy: the best things come in small packages.
- Published in:
- Neurogenetics, 2020, v. 21, n. 1, p. 1, doi. 10.1007/s10048-019-00598-x
- By:
- Publication type:
- Article
Understanding Spreading Depression from Headache to Sudden Unexpected Death.
- Published in:
- Frontiers in Neurology, 2018, p. 1, doi. 10.3389/fneur.2018.00019
- By:
- Publication type:
- Article
Autism-epilepsy phenotype with macrocephaly suggests PTEN, but not GLIALCAM, genetic screening.
- Published in:
- BMC Medical Genetics, 2014, v. 15, n. 1, p. 1, doi. 10.1186/1471-2350-15-26
- By:
- Publication type:
- Article