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A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.
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- Movement Disorders, 2012, v. 27, n. 9, p. 1200, doi. 10.1002/mds.25083
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- Publication type:
- Article
Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Loss of synaptic Zn<sup>2+</sup> transporter function increases risk of febrile seizures.
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- Scientific Reports, 2015, p. 17816, doi. 10.1038/srep17816
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- Publication type:
- Article
The genetic basis of music ability.
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- Frontiers in Psychology, 2014, v. 5, p. 1, doi. 10.3389/fpsyg.2014.00658
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- Publication type:
- Article
Synaptic Zn<sup>2</sup><sup>+</sup> and febrile seizure susceptibility.
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- 2017
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- Publication type:
- journal article
Plasma neurofilament light chain protein is not increased in treatment-resistant schizophrenia and first-degree relatives.
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- Australian & New Zealand Journal of Psychiatry, 2022, v. 56, n. 10, p. 1295, doi. 10.1177/00048674211058684
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- Publication type:
- Article
KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood.
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- PLoS ONE, 2018, v. 13, n. 1, p. 1, doi. 10.1371/journal.pone.0191546
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- Publication type:
- Article
Nicotine-Induced Dystonic Arousal Complex in a Mouse Line Harboring a Human Autosomal-Dominant Nocturnal Frontal Lobe Epilepsy Mutation.
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- Journal of Neuroscience, 2007, v. 27, n. 38, p. 10128, doi. 10.1523/JNEUROSCI.3042-07.2007
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- Publication type:
- Article
New driving guidelines: ethical and legal uncertainties.
- Published in:
- 2003
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- Publication type:
- commentary
Mysteries of epilepsy.
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- Medical Journal of Australia, 2003, v. 178, n. 9, p. 463, doi. 10.5694/j.1326-5377.2003.tb05276.x
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- Publication type:
- Article
Neurological disorders.
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- Medical Journal of Australia, 2000, v. 172, n. 8, p. 393, doi. 10.5694/j.1326-5377.2000.tb124019.x
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- Publication type:
- Article
Deaths due to brain injury among footballers in Victoria, 1968‐1999.
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- Medical Journal of Australia, 2000, v. 172, n. 5, p. 217, doi. 10.5694/j.1326-5377.2000.tb123912.x
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- Publication type:
- Article
Epilepsy: progress in solving mysteries and dispelling myths.
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- Medical Journal of Australia, 1996, v. 165, n. 5, p. 245, doi. 10.5694/j.1326-5377.1996.tb124954.x
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- Publication type:
- Article
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
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- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3626
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- Publication type:
- Article
Susceptibility genes for complex epilepsy.
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- Human Molecular Genetics, 2005, v. 14, n. 2, p. r243, doi. 10.1093/hmg/ddi355
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- Publication type:
- Article
Susceptibility genes for complex epilepsy.
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- Human Molecular Genetics, 2005, v. 14, n. suppl_2, p. R243, doi. 10.1093/hmg/ddi355
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- Publication type:
- Article
GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies.
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- Human Molecular Genetics, 2004, v. 13, n. 13, p. 1315, doi. 10.1093/hmg/ddh146
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- Publication type:
- Article
UNC13B and focal epilepsy.
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- 2022
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- Publication type:
- editorial
Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.
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- 2021
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- Publication type:
- journal article
Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features.
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- 2019
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- Publication type:
- journal article
Reply: Transcranial magnetic stimulation as a biomarker for epilepsy.
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- 2017
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- Publication type:
- letter
Transcranial magnetic stimulation as a biomarker for epilepsy.
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- 2017
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- Publication type:
- letter
Rare Genetic Variation and Outcome of Surgery for Mesial Temporal Lobe Epilepsy.
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- Annals of Neurology, 2023, v. 93, n. 4, p. 752, doi. 10.1002/ana.26581
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- Publication type:
- Article
Improving Specificity of Cerebrospinal Fluid Liquid Biopsy for Genetic Testing.
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- Annals of Neurology, 2021, v. 90, n. 4, p. 693, doi. 10.1002/ana.26191
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- Publication type:
- Article
Postictal Psychosis in Epilepsy: A Clinicogenetic Study.
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- Annals of Neurology, 2021, v. 90, n. 3, p. 464, doi. 10.1002/ana.26174
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- Publication type:
- Article
Progressive Myoclonus Epilepsy Caused by a Homozygous Splicing Variant of SLC7A6OS.
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- Annals of Neurology, 2021, v. 89, n. 2, p. 402, doi. 10.1002/ana.25941
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- Publication type:
- Article
Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load.
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- 2020
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- Publication type:
- journal article
SCN1A Variants in vaccine-related febrile seizures: A prospective study.
- Published in:
- 2020
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- Publication type:
- journal article
The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence.
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- 2020
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- Publication type:
- journal article
Epilepsy in families: Age at onset is a familial trait, independent of syndrome.
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- 2019
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- Publication type:
- journal article
Metabolic patterns and seizure outcomes following anterior temporal lobectomy.
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- 2019
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- Publication type:
- journal article
Familial mesial temporal lobe epilepsy and the borderland of déjà vu.
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- 2017
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- Publication type:
- journal article
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy.
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- 2016
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- Publication type:
- journal article
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
- Published in:
- 2016
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- Publication type:
- journal article
Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy.
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- Annals of Neurology, 2015, v. 78, n. 2, p. 323, doi. 10.1002/ana.24457
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- Publication type:
- Article
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
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- Annals of Neurology, 2014, v. 75, n. 5, p. 782, doi. 10.1002/ana.24126
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- Publication type:
- Article
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine.
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- Annals of Neurology, 2014, v. 75, n. 4, p. 581, doi. 10.1002/ana.24128
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- Publication type:
- Article
Mutations in TNK2 in severe autosomal recessive infantile onset epilepsy.
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- Annals of Neurology, 2013, v. 74, n. 3, p. 496, doi. 10.1002/ana.23934
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- Publication type:
- Article
Ictal SPECT Using Technetium-99m-HMPAO: Methods for Rapid Preparation and Optimal Deployment of Tracer During Spontaneous Seizures.
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- Journal of Nuclear Medicine, 1993, v. 34, n. 4, p. 666
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- Publication type:
- Article
Visual and Quantitative Analysis of Interictal SPECT with Technetium-99m-HMPAO in Temporal Lobe Epilepsy.
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- Journal of Nuclear Medicine, 1991, v. 32, n. 9, p. 1688
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- Publication type:
- Article
Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6333, doi. 10.3390/ijms21176333
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- Publication type:
- Article
State transitions through inhibitory interneurons in a cortical network model.
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- PLoS Computational Biology, 2021, v. 17, n. 10, p. 1, doi. 10.1371/journal.pcbi.1009521
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- Publication type:
- Article
Loss‐of‐function variants in K<sub>v</sub>11.1 cardiac channels as a biomarker for SUDEP.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1422, doi. 10.1002/acn3.51381
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- Publication type:
- Article
Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy.
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- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 1, p. 153, doi. 10.1002/acn3.51258
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- Publication type:
- Article
Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA.
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- Annals of Clinical & Translational Neurology, 2019, v. 6, n. 7, p. 1338, doi. 10.1002/acn3.50815
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- Publication type:
- Article
Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?
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- Annals of Clinical & Translational Neurology, 2017, v. 4, n. 4, p. 276, doi. 10.1002/acn3.401
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- Publication type:
- Article
Familial cortical dysplasia type IIA caused by a germline mutation in DEPDC5.
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- Annals of Clinical & Translational Neurology, 2015, v. 2, n. 5, p. 575, doi. 10.1002/acn3.191
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- Publication type:
- Article
Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?
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- Frontiers in Neurology, 2020, v. 11, p. N.PAG, doi. 10.3389/fneur.2020.00925
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- Publication type:
- Article
Aicardi Syndrome Is a Genetically Heterogeneous Disorder.
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- Genes, 2023, v. 14, n. 8, p. 1565, doi. 10.3390/genes14081565
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- Publication type:
- Article
The influence of changes in the intensity of magnetic stimulation on coil output.
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- Muscle & Nerve, 1993, v. 16, n. 12, p. 1338, doi. 10.1002/mus.880161211
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- Publication type:
- Article