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Year Number of Results
1979 1
1987 1
1988 1
1992 3
1994 6
1995 1
1996 1
1997 2
2000 2
2001 2
2002 1
2004 3
2005 1
2006 2
2007 1
2010 6
2011 4
2013 5
2014 8
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2016 12
2017 6
2018 3
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2020 9
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120 results

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Page 1
Recent advances in epilepsy genomics and genetic testing.
Hebbar M, Mefford HC. Hebbar M, et al. F1000Res. 2020 Mar 12;9:F1000 Faculty Rev-185. doi: 10.12688/f1000research.21366.1. eCollection 2020. F1000Res. 2020. PMID: 32201576 Free PMC article. Review.
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. . …
Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refr …
Safety of Transcranial Direct Current Stimulation: Evidence Based Update 2016.
Bikson M, Grossman P, Thomas C, Zannou AL, Jiang J, Adnan T, Mourdoukoutas AP, Kronberg G, Truong D, Boggio P, Brunoni AR, Charvet L, Fregni F, Fritsch B, Gillick B, Hamilton RH, Hampstead BM, Jankord R, Kirton A, Knotkova H, Liebetanz D, Liu A, Loo C, Nitsche MA, Reis J, Richardson JD, Rotenberg A, Turkeltaub PE, Woods AJ. Bikson M, et al. Brain Stimul. 2016 Sep-Oct;9(5):641-661. doi: 10.1016/j.brs.2016.06.004. Epub 2016 Jun 15. Brain Stimul. 2016. PMID: 27372845 Free PMC article. Review.
Arbitrary safety considerations are avoided. Computational models are used to relate dose to brain exposure in humans and animals. We review relevant dose-response curves and dose metrics (e.g. current, duration, current density, charge, charge density) for meaningful safe …
Arbitrary safety considerations are avoided. Computational models are used to relate dose to brain exposure in humans and animals. We …
The burden of illness in Lennox-Gastaut syndrome: a systematic literature review.
Strzelczyk A, Zuberi SM, Striano P, Rosenow F, Schubert-Bast S. Strzelczyk A, et al. Orphanet J Rare Dis. 2023 Mar 1;18(1):42. doi: 10.1186/s13023-023-02626-4. Orphanet J Rare Dis. 2023. PMID: 36859290 Free PMC article. Review.
BACKGROUND: Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by drug-resistant epilepsy with multiple seizure types starting in childhood, a typical slow spike-wave pattern on electroencephalogram, and …
BACKGROUND: Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy characterized by drug- …
Advances in the genetics and neuropathology of tuberous sclerosis complex: edging closer to targeted therapy.
Curatolo P, Specchio N, Aronica E. Curatolo P, et al. Lancet Neurol. 2022 Sep;21(9):843-856. doi: 10.1016/S1474-4422(22)00213-7. Lancet Neurol. 2022. PMID: 35963265 Review.
Many potential disease-modifying strategies have been identified, including developments in targeted therapies based on molecular findings in epilepsy. Reliable EEG and MRI biomarkers are now available to identify, at a younger age than previously possible, infants with tu …
Many potential disease-modifying strategies have been identified, including developments in targeted therapies based on molecular findings i …
Epilepsy and brain tumors: Two sides of the same coin.
Aronica E, Ciusani E, Coppola A, Costa C, Russo E, Salmaggi A, Perversi F, Maschio M. Aronica E, et al. J Neurol Sci. 2023 Mar 15;446:120584. doi: 10.1016/j.jns.2023.120584. Epub 2023 Feb 13. J Neurol Sci. 2023. PMID: 36842341 Free article. Review.
Epilepsy is the most common symptom in patients with brain tumors. ...These include augmented neuronal excitatory transmission, impaired inhibitory transmission, genetic mutations in the BRAF, IDH, and PIK3CA genes, inflammation, hemodynamic impairments, and astrocy …
Epilepsy is the most common symptom in patients with brain tumors. ...These include augmented neuronal excitatory transmission …
RARS1-related developmental and epileptic encephalopathy.
Wan L, Yu D, Li Z, Liu X, Liang Y, Yan H, Zhu G, Zhang B, Yang G. Wan L, et al. Epilepsia Open. 2023 Sep;8(3):867-876. doi: 10.1002/epi4.12751. Epub 2023 May 5. Epilepsia Open. 2023. PMID: 37186453 Free PMC article. Review.
OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with central nervous system (CNS) manifestations, such as hypomyelinating leukodystrophy-9 and developmental and epileptic ence …
OBJECTIVE: Biallelic variants of RARS1, a gene that encodes the cytoplasmic tRNA synthetase for arginine (ArgRS), are associated with centra …
Outcomes Associated With Isolated Agenesis of the Corpus Callosum: A Meta-analysis.
D'Antonio F, Pagani G, Familiari A, Khalil A, Sagies TL, Malinger G, Leibovitz Z, Garel C, Moutard ML, Pilu G, Bhide A, Acharya G, Leombroni M, Manzoli L, Papageorghiou A, Prefumo F. D'Antonio F, et al. Pediatrics. 2016 Sep;138(3):e20160445. doi: 10.1542/peds.2016-0445. Pediatrics. 2016. PMID: 27581855 Review.
Gross and fine motor control were abnormal in 4.40% (95% CI, 0.6-11.3) and 10.98% (95% CI, 4.1-20.6) of the cases, respectively, whereas 6.80% (95% CI, 1.7-14.9) presented with epilepsy. Abnormal cognitive status occurred in 15.16% (95% CI, 6.9-25.9) o …
Gross and fine motor control were abnormal in 4.40% (95% CI, 0.6-11.3) and 10.98% (95% CI, 4.1-20.6) of the cases, respectively, whereas 6.8 …
SLC13A5 Deficiency Disorder: From Genetics to Gene Therapy.
Goodspeed K, Liu JS, Nye KL, Prasad S, Sadhu C, Tavakkoli F, Bilder DA, Minassian BA, Bailey RM. Goodspeed K, et al. Genes (Basel). 2022 Sep 15;13(9):1655. doi: 10.3390/genes13091655. Genes (Basel). 2022. PMID: 36140822 Free PMC article. Review.
Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation sequencing technologies have enabled an explosion of gene identification in monogenic epilepsies. ...Patients typically experience seizure onset within the first week of …
Epileptic encephalopathies may arise from single gene variants. In recent years, next-generation sequencing technologies have …
Hyaline protoplasmic astrocytopathy in epilepsy.
Magaki S, Haeri M, Szymanski LJ, Chen Z, Diaz R, Williams CK, Chang JW, Ao Y, Newell KL, Khanlou N, Yong WH, Fallah A, Salamon N, Daniel T, Cotter J, Hawes D, Sofroniew M, Vinters HV. Magaki S, et al. Neuropathology. 2023 Dec;43(6):441-456. doi: 10.1111/neup.12909. Epub 2023 May 17. Neuropathology. 2023. PMID: 37198977 Review.
It has mainly been observed in children and adults with a history of developmental delay and epilepsy, frequently with focal cortical dysplasia (FCD), but the nature and significance of these inclusions are unclear. In this study, we review the clinical and patholog …
It has mainly been observed in children and adults with a history of developmental delay and epilepsy, frequently with focal c …
Epileptic Encephalopathies-Clinical Syndromes and Pathophysiological Concepts.
von Deimling M, Helbig I, Marsh ED. von Deimling M, et al. Curr Neurol Neurosci Rep. 2017 Feb;17(2):10. doi: 10.1007/s11910-017-0720-7. Curr Neurol Neurosci Rep. 2017. PMID: 28229394 Review.
Epileptic encephalopathies account for a large proportion of the intractable early-onset epilepsies and are characterized by frequent seizures and poor developmental outcome. The epileptic encephalopathies can be loosely divided into two related …
Epileptic encephalopathies account for a large proportion of the intractable early-onset epilepsies and are characterized by f …
120 results