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Year Number of Results
1946 2
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1952 1
1953 2
1954 3
1955 3
1956 5
1957 8
1958 6
1959 5
1960 10
1961 11
1962 11
1963 20
1964 101
1965 85
1966 81
1967 148
1968 149
1969 180
1970 218
1971 261
1972 278
1973 302
1974 331
1975 378
1976 328
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1978 338
1979 356
1980 414
1981 415
1982 451
1983 492
1984 507
1985 562
1986 571
1987 533
1988 562
1989 680
1990 891
1991 1094
1992 1142
1993 1410
1994 1449
1995 1563
1996 1763
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1998 1923
1999 1997
2000 2386
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2002 2402
2003 2488
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2005 2661
2006 2904
2007 2962
2008 2969
2009 3080
2010 3223
2011 3364
2012 3720
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2014 3875
2015 3894
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92,868 results

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Quoted phrase not found in phrase index: "Amino acid or protein metabolism disease with epilepsy"
Page 1
The glucose transporter type 1 (Glut1) syndromes.
Koch H, Weber YG. Koch H, et al. Epilepsy Behav. 2019 Feb;91:90-93. doi: 10.1016/j.yebeh.2018.06.010. Epub 2018 Jul 31. Epilepsy Behav. 2019. PMID: 30076047 Review.
The clinical picture of Glut1 defects and the understanding of the pathophysiology of this disease have significantly grown. A special form of transient movement disorders, the paroxysmal exertion-induced dyskinesia (PED), absence epilepsies particularly with an ear …
The clinical picture of Glut1 defects and the understanding of the pathophysiology of this disease have significantly grown. A specia …
Metabolic features of the cell danger response.
Naviaux RK. Naviaux RK. Mitochondrion. 2014 May;16:7-17. doi: 10.1016/j.mito.2013.08.006. Epub 2013 Aug 24. Mitochondrion. 2014. PMID: 23981537 Free article. Review.
The resulting metabolic mismatch between available resources and functional capacity produces a cascade of changes in cellular electron flow, oxygen consumption, redox, membrane fluidity, lipid dynamics, bioenergetics, carbon and sulfur resource allocation, protein …
The resulting metabolic mismatch between available resources and functional capacity produces a cascade of changes in cellular electr …
Neuroinflammatory pathways as treatment targets and biomarkers in epilepsy.
Vezzani A, Balosso S, Ravizza T. Vezzani A, et al. Nat Rev Neurol. 2019 Aug;15(8):459-472. doi: 10.1038/s41582-019-0217-x. Epub 2019 Jul 1. Nat Rev Neurol. 2019. PMID: 31263255 Review.
Epilepsy is a chronic neurological disease characterized by an enduring propensity for generation of seizures. ...Such treatments are particularly needed for pharmacoresistant epilepsies, which affect ~30% of patients. Neuroinflammation is commonly activated …
Epilepsy is a chronic neurological disease characterized by an enduring propensity for generation of seizures. ...Such treatme …
Molecular mechanisms of depression: perspectives on new treatment strategies.
Lang UE, Borgwardt S. Lang UE, et al. Cell Physiol Biochem. 2013;31(6):761-77. doi: 10.1159/000350094. Epub 2013 May 31. Cell Physiol Biochem. 2013. PMID: 23735822 Free article. Review.
Depression is a multicausal disorder and has been associated with the risk to develop cancer, dementia, diabetes, epilepsy and stroke. As a metabolic disorder depression has been associated with obesity, diabetes, insulin sensitivity, neuropeptide Y, glucose regulat …
Depression is a multicausal disorder and has been associated with the risk to develop cancer, dementia, diabetes, epilepsy and stroke …
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents.
Hon KL, Leung AKC, Torres AR. Hon KL, et al. Recent Pat Inflamm Allergy Drug Discov. 2018;12(2):128-135. doi: 10.2174/1872213X12666180508122450. Recent Pat Inflamm Allergy Drug Discov. 2018. PMID: 29745347 Review.
BACKGROUND: New-Onset Refractory Status Epilepticus (NORSE) refers to a clinical presentation in a patient without active epilepsy or other existing relevant neurological disorder, with new onset of refractory status epilepticus in the absence of a clear acute or active st …
BACKGROUND: New-Onset Refractory Status Epilepticus (NORSE) refers to a clinical presentation in a patient without active epilepsy or …
Autoimmune Epilepsy.
Toledano M, Pittock SJ. Toledano M, et al. Semin Neurol. 2015 Jun;35(3):245-58. doi: 10.1055/s-0035-1552625. Epub 2015 Jun 10. Semin Neurol. 2015. PMID: 26060904 Review.
Seizures are recognized as a common manifestation of autoimmune limbic encephalitis and multifocal paraneoplastic disorders, but accumulating evidence supports an autoimmune basis for seizures in the absence of syndromic manifestations of encephalitis. Autoimmune encephalitis and …
Seizures are recognized as a common manifestation of autoimmune limbic encephalitis and multifocal paraneoplastic disorders, but accumulatin …
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M, Lehesjoki AE, Mole SE. Kousi M, et al. Hum Mutat. 2012 Jan;33(1):42-63. doi: 10.1002/humu.21624. Epub 2011 Nov 16. Hum Mutat. 2012. PMID: 21990111 Review.
Despite excessive in vitro and in vivo studies, the precise functions of the NCL proteins and the disease mechanisms remain elusive. To date 365 NCL-causing mutations are known, with 91 novel disease-causing mutations reported. ...For example, mutations in CL …
Despite excessive in vitro and in vivo studies, the precise functions of the NCL proteins and the disease mechanisms remain el …
The genomic landscape across 474 surgically accessible epileptogenic human brain lesions.
López-Rivera JA, Leu C, Macnee M, Khoury J, Hoffmann L, Coras R, Kobow K, Bhattarai N, Pérez-Palma E, Hamer H, Brandner S, Rössler K, Bien CG, Kalbhenn T, Pieper T, Hartlieb T, Butler E, Genovese G, Becker K, Altmüller J, Niestroj LM, Ferguson L, Busch RM, Nürnberg P, Najm I, Blümcke I, Lal D. López-Rivera JA, et al. Brain. 2023 Apr 19;146(4):1342-1356. doi: 10.1093/brain/awac376. Brain. 2023. PMID: 36226386 Free PMC article.
We detect somatic variants in 12 established lesional epilepsy genes and demonstrate exome-wide statistical support for three of these in the aetiology of low-grade epilepsy-associated tumours (e.g. ...We also identify novel significant associations for PTPN11 with …
We detect somatic variants in 12 established lesional epilepsy genes and demonstrate exome-wide statistical support for three of thes …
Epilepsy.
Fauser S, Tumani H. Fauser S, et al. Handb Clin Neurol. 2017;146:259-266. doi: 10.1016/B978-0-12-804279-3.00015-0. Handb Clin Neurol. 2017. PMID: 29110774 Review.
Epilepsy is worldwide one of the most common neurologic diseases (prevalence 0.5-1%). ...Intrathecal immunoglobulin synthesis is increasingly observed in patients with focal cryptogenic epilepsy. Systematic prospective clinical and experimental trials are req …
Epilepsy is worldwide one of the most common neurologic diseases (prevalence 0.5-1%). ...Intrathecal immunoglobulin synthesis …
Lafora disease.
Turnbull J, Tiberia E, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA. Turnbull J, et al. Epileptic Disord. 2016 Sep 1;18(S2):38-62. doi: 10.1684/epd.2016.0842. Epileptic Disord. 2016. PMID: 27702709 Free PMC article. Review.
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. ...Diagnosis and genetic counseling are important aspect …
Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B …
92,868 results
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