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2005 2
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Global, regional, and national burden of neurological disorders, 1990-2016: a systematic analysis for the Global Burden of Disease Study 2016.
GBD 2016 Neurology Collaborators. GBD 2016 Neurology Collaborators. Lancet Neurol. 2019 May;18(5):459-480. doi: 10.1016/S1474-4422(18)30499-X. Epub 2019 Mar 14. Lancet Neurol. 2019. PMID: 30879893 Free PMC article.
METHODS: We estimated prevalence, incidence, deaths, and disability-adjusted life-years (DALYs; the sum of years of life lost [YLLs] and years lived with disability [YLDs]) by age and sex for 15 neurological disorder categories (tetanus, meningitis, encephalitis, stroke, brain an …
METHODS: We estimated prevalence, incidence, deaths, and disability-adjusted life-years (DALYs; the sum of years of life lost [YLLs] and yea …
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
PURPOSE: Nonerythrocytic alphaII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy. We conducted this study to delineate the phenotypic spectrum of SPTAN1 variants. ...
PURPOSE: Nonerythrocytic alphaII-spectrin (SPTAN1) variants have been previously associated with intellectual disability and epilepsy …
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro A, Pelorosso C, Balestrini S, Masi A, Hambleton S, Argilli E, Conti V, Giubbolini S, Barrick R, Bergant G, Writzl K, Bijlsma EK, Brunet T, Cacheiro P, Mei D, Devlin A, Hoffer MJV, Machol K, Mannaioni G, Sakamoto M, Menezes MP, Courtin T, Sherr E, Parra R, Richardson R, Roscioli T, Scala M, von Stülpnagel C, Smedley D; TMEM63B collaborators; Genomics England Research Consortium; Torella A, Tohyama J, Koichihara R, Hamada K, Ogata K, Suzuki T, Sugie A, van der Smagt JJ, van Gassen K, Valence S, Vittery E, Malone S, Kato M, Matsumoto N, Ratto GM, Guerrini R. Vetro A, et al. Am J Hum Genet. 2023 Aug 3;110(8):1356-1376. doi: 10.1016/j.ajhg.2023.06.008. Epub 2023 Jul 7. Am J Hum Genet. 2023. PMID: 37421948 Free PMC article.
TMEM63B-associated DEE represents a recognizable clinicopathological entity in which altered cation conductivity results in a severe neurological phenotype with progressive brain damage and early-onset epilepsy associated with hematological abnormalities in most individual …
TMEM63B-associated DEE represents a recognizable clinicopathological entity in which altered cation conductivity results in a severe neurolo …
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H, Clayton LM, Bellampalli R, Pagni S, Silvennoinen K, Caswell R; Genomics England Research Consortium; Brunklaus A, Guerrini R, Koeleman BPC, Lemke JR, Møller RS, Scheffer IE, Weckhuysen S, Zara F, Zuberi S, Kuchenbaecker K, Balestrini S, Mills JD, Sisodiya SM. Martins Custodio H, et al. Brain. 2023 Sep 1;146(9):3885-3897. doi: 10.1093/brain/awad111. Brain. 2023. PMID: 37006128 Free PMC article.
Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically caused by loss-of-function SCN1A variants. ...In 34 adults with SCN1A-related Dravet syndrome, we show additional genomic variation beyond SCN1A contributes to phenotype and its divers …
Dravet syndrome is an archetypal rare severe epilepsy, considered 'monogenic', typically caused by loss-of-function SCN1A variants. . …
Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.
Jeffries L, Mis EK, McWalter K, Donkervoort S, Brodsky NN, Carpier JM, Ji W, Ionita C, Roy B, Morrow JS, Darbinyan A, Iyer K, Aul RB, Banka S, Chao KR, Cobbold L, Cohen S, Custodio HM, Drummond-Borg M, Elmslie F, Finanger E, Hainline BE, Helbig I, Hewson S, Hu Y, Jackson A, Josifova D, Konstantino M, Leach ME, Mak B, McCormick D, McGee E, Nelson S, Nguyen J, Nugent K, Ortega L, Goodkin HP, Roeder E, Roy S, Sapp K, Saade D, Sisodiya SM, Stals K, Towner S, Wilson W; Deciphering Developmental Disorders; Genomics England Research Consortium; Undiagnosed Disease Network; Khokha MK, Bönnemann CG, Lucas CL, Lakhani SA. Jeffries L, et al. Genet Med. 2024 Feb;26(2):101023. doi: 10.1016/j.gim.2023.101023. Epub 2023 Nov 7. Genet Med. 2024. PMID: 37947183
Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about half demonstrating cardiac arrhythmias and some experiencing recurrent infections. ...
Affected individuals displayed an array of phenotypes involving developmental delay, early-onset epilepsy, and hypotonia, with about …
Mesial temporal lobe epilepsy - An overview of surgical techniques.
Muzumdar D, Patil M, Goel A, Ravat S, Sawant N, Shah U. Muzumdar D, et al. Int J Surg. 2016 Dec;36(Pt B):411-419. doi: 10.1016/j.ijsu.2016.10.027. Epub 2016 Oct 20. Int J Surg. 2016. PMID: 27773861 Free article. Review.
Mesial temporal lobe epilepsy is one of the commonest indications for epilepsy surgery. Presurgical evaluation for drug resistant epilepsy and identification of appropriate candidates for surgery is essential for optimal seizure freedom. ...
Mesial temporal lobe epilepsy is one of the commonest indications for epilepsy surgery. Presurgical evaluation for drug resist …
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach.
Best S, Yu J, Lord J, Roche M, Watson CM, Bevers RPJ, Stuckey A, Madhusudhan S, Jewell R, Sisodiya SM, Lin S, Turner S, Robinson H, Leslie JS, Baple E; Genomics England Research Consortium; Toomes C, Inglehearn C, Wheway G, Johnson CA. Best S, et al. J Med Genet. 2022 Dec;59(12):1151-1164. doi: 10.1136/jmedgenet-2022-108476. Epub 2022 Jun 28. J Med Genet. 2022. PMID: 35764379 Free PMC article.
Pandanus odoratissimus (Kewda): A Review on Ethnopharmacology, Phytochemistry, and Nutritional Aspects.
Adkar PP, Bhaskar VH. Adkar PP, et al. Adv Pharmacol Sci. 2014;2014:120895. doi: 10.1155/2014/120895. Epub 2014 Dec 22. Adv Pharmacol Sci. 2014. PMID: 25949238 Free PMC article. Review.
(family: Pandanaceae) is traditionally recommended by the Indian Ayurvedic medicines for treatment of headache, rheumatism, spasm, cold/flu, epilepsy, wounds, boils, scabies, leucoderma, ulcers, colic, hepatitis, smallpox, leprosy, syphilis, and cancer and as a cardiotonic …
(family: Pandanaceae) is traditionally recommended by the Indian Ayurvedic medicines for treatment of headache, rheumatism, spasm, cold/flu, …
Cardiac Investigations in Sudden Unexpected Death in DEPDC5-Related Epilepsy.
Bacq A, Roussel D, Bonduelle T, Zagaglia S, Maletic M, Ribierre T, Adle-Biassette H, Marchal C, Jennesson M, An I; Genomics England Research Consortium; Picard F, Navarro V, Sisodiya SM, Baulac S. Bacq A, et al. Ann Neurol. 2022 Jan;91(1):101-116. doi: 10.1002/ana.26256. Epub 2021 Nov 16. Ann Neurol. 2022. PMID: 34693554 Free PMC article.
OBJECTIVE: Germline loss-of-function mutations in DEPDC5, and in its binding partners (NPRL2/3) of the mammalian target of rapamycin (mTOR) repressor GATOR1 complex, cause focal epilepsies and increase the risk of sudden unexpected death in epilepsy (SUDEP). Here, we asked …
OBJECTIVE: Germline loss-of-function mutations in DEPDC5, and in its binding partners (NPRL2/3) of the mammalian target of rapamycin (mTOR) …
Late diagnoses of Dravet syndrome: How many individuals are we missing?
Silvennoinen K, Puvirajasinghe C, Hudgell K, Sidhu MK, Martins Custodio H; Genomics England Research Consortium; Jones WD, Balestrini S, Sisodiya SM. Silvennoinen K, et al. Epilepsia Open. 2021 Dec;6(4):770-776. doi: 10.1002/epi4.12525. Epub 2021 Aug 5. Epilepsia Open. 2021. PMID: 34268891 Free PMC article.
We report new genetic diagnoses of Dravet syndrome in a group of adults with complex epilepsy of unknown cause, under follow-up at a tertiary epilepsy center. Individuals with epilepsy and other features of unknown cause from our unit underwent whole-genome s …
We report new genetic diagnoses of Dravet syndrome in a group of adults with complex epilepsy of unknown cause, under follow-up at a …
21 results