Found: 20
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Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.
- Published in:
- 2021
- By:
- Publication type:
- Case Study
Loss of synaptic Zn<sup>2+</sup> transporter function increases risk of febrile seizures.
- Published in:
- Scientific Reports, 2015, p. 17816, doi. 10.1038/srep17816
- By:
- Publication type:
- Article
Synaptic Zn<sup>2</sup><sup>+</sup> and febrile seizure susceptibility.
- Published in:
- 2017
- By:
- Publication type:
- journal article
Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 19, p. 3626
- By:
- Publication type:
- Article
Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture.
- Published in:
- Annals of Neurology, 2023, v. 94, n. 5, p. 825, doi. 10.1002/ana.26765
- By:
- Publication type:
- Article
Quinidine in the treatment of KCNT1-positive epilepsies.
- Published in:
- 2015
- By:
- Publication type:
- journal article
Does variation in NIPA2 contribute to genetic generalized epilepsy?
- Published in:
- 2014
- By:
- Publication type:
- Letter
Distinctive In Vitro Phenotypes in iPSC-Derived Neurons From Patients With Gain- and Loss-of-Function SCN2A Developmental and Epileptic Encephalopathy.
- Published in:
- Journal of Neuroscience, 2024, v. 44, n. 8, p. 1, doi. 10.1523/JNEUROSCI.0692-23.2023
- By:
- Publication type:
- Article
Evaluation of non-coding variation in GLUT1 deficiency.
- Published in:
- 2016
- By:
- Publication type:
- journal article
Lamotrigine can be beneficial in patients with Dravet syndrome.
- Published in:
- Developmental Medicine & Child Neurology, 2015, v. 57, n. 2, p. 200, doi. 10.1111/dmcn.12593
- By:
- Publication type:
- Article
Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.
- Published in:
- Human Mutation, 2022, v. 43, n. 12, p. 1956, doi. 10.1002/humu.24454
- By:
- Publication type:
- Article
Deletions of 16p11.2 and 19p13.2 in a family with intellectual disability and generalized epilepsy.
- Published in:
- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 7, p. 1722, doi. 10.1002/ajmg.a.35946
- By:
- Publication type:
- Article
Glucose transporter 1 deficiency in the idiopathic generalized epilepsies.
- Published in:
- Annals of Neurology, 2012, v. 72, n. 5, p. 807, doi. 10.1002/ana.23702
- By:
- Publication type:
- Article
Reply.
- Published in:
- Annals of Neurology, 2010, v. 67, n. 2, p. 273, doi. 10.1002/ana.21968
- By:
- Publication type:
- Article
Early-onset absence epilepsy caused by mutations in the glucose transporter GLUT1.
- Published in:
- Annals of Neurology, 2009, v. 66, n. 3, p. 415, doi. 10.1002/ana.21724
- By:
- Publication type:
- Article
Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy.
- Published in:
- Epilepsia (Series 4), 2020, v. 61, n. 4, p. e23, doi. 10.1111/epi.16475
- By:
- Publication type:
- Article
Genetic generalized epilepsies.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 6, p. 1148, doi. 10.1111/epi.14042
- By:
- Publication type:
- Article
Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role.
- Published in:
- Epilepsia (Series 4), 2014, v. 55, n. 2, p. e18, doi. 10.1111/epi.12519
- By:
- Publication type:
- Article
Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome.
- Published in:
- Epilepsia (Series 4), 2013, v. 54, n. 9, p. e122, doi. 10.1111/epi.12323
- By:
- Publication type:
- Article
Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency.
- Published in:
- Epilepsia (Series 4), 2012, v. 53, n. 12, p. e204, doi. 10.1111/epi.12007
- By:
- Publication type:
- Article