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Search life-sciences literature (45,104,145 articles, preprints and more)

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.
Demidov G, Yaldiz B, Garcia-Pelaez J, de Boer E, Schuermans N, Van de Vondel L, Paramonov I, Johansson LF, Musacchia F, Benetti E, Bullich G, Sablauskas K, Beltran S, Gilissen C, Hoischen A, Ossowski S, de Voer R, Lohmann K, Oliveira C, [...] Laurie S
NPJ Genom Med, 9(1):49, 26 Oct 2024
Cited by: 0 articles | PMID: 39461972 | PMCID: PMC11513043
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Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.
Khan A, Muhammad A, Ullah H, Ambreen H, Ullah A, May P, Lerche H, Haack TB, Rehman SU, Kegele J
Clin Genet, 14 Oct 2024
Cited by: 0 articles | PMID: 39400946
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Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
Epi25 Collaborative
Nat Neurosci, 27(10):1864-1879, 03 Oct 2024
Cited by: 0 articles | PMID: 39363051
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Correction to: Cenobamate: real-world data from a retrospective multicenter study.
Lauxmann S, Heuer D, Heckelmann J, Fischer FP, Schreiber M, Schriewer E, Widman G, Weber Y, Lerche H, Alber M, Schuh-Hofer S, Wolking S
J Neurol, 271(10):6605, 01 Oct 2024
Cited by: 0 articles | PMID: 39167175 | PMCID: PMC11457691
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N-of-1 trials in epilepsy: A systematic review and lessons paving the way forward.
Defelippe VM, Brilstra EH, Otte WM, Cross HJ, O'Callaghan F, De Giorgis V, Poduri A, Lerche H, Sisodiya S, Braun KPJ, Jansen FE, Perucca E
Epilepsia, 65(11):3119-3137, 10 Sep 2024
Cited by: 0 articles | PMID: 39254637
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Effective excitability captures network dynamics across development and phenotypes
Vinogradov O, Giannakakis E, Buendía V, Uysal B, Ron S, Weinreb E, Schwarz N, Lerche H, Moses E, Levina A
bioRxiv, 21 Aug 2024
Cited by: 0 articles | PPR: PPR898324
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Cenobamate: real-world data from a retrospective multicenter study.
Lauxmann S, Heuer D, Heckelmann J, Fischer FP, Schreiber M, Schriewer E, Widman G, Weber Y, Lerche H, Alber M, Schuh-Hofer S, Wolking S
J Neurol, 271(10):6596-6604, 01 Jul 2024
Cited by: 0 articles | PMID: 38954033 | PMCID: PMC11447096
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Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect.
Yang F, Begemann A, Reichhart N, Haeckel A, Steindl K, Schellenberger E, Sturm RF, Barth M, Bassani S, Boonsawat P, Courtin T, Delobel B, EuroEPINOMICS-RES Dravet working group, Gunning B, Hardies K, Jennesson M, Legoff L, Linnankivi T, Prouteau C, [...] Rauch A
Am J Hum Genet, 111(6):1184-1205, 13 May 2024
Cited by: 0 articles | PMID: 38744284 | PMCID: PMC11179416
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Optimizing clinical interpretability of functional evidence in epilepsy-related ion channel variants
Parthasarathy S, Cohen SR, Fitch E, Vaidiswaran P, Ruggiero S, Lusk L, Chisari V, Lewis-Smith D, Lauxmann S, Boßelmann CM, Thompson CH, Wengert ER, Hedrich U, Ganesan S, Balagura G, Krause R, Xian J, Galer P, Pendziwiat M, [...] Helbig I
bioRxiv, 14 May 2024
Cited by: 0 articles | PPR: PPR852381
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Risk of Major Congenital Malformations and Exposure to Antiseizure Medication Monotherapy.
Battino D, Tomson T, Bonizzoni E, Craig J, Perucca E, Sabers A, Thomas S, Alvestad S, Perucca P, Vajda F, EURAP Collaborators
JAMA Neurol, 81(5):481-489, 01 May 2024
Cited by: 4 articles | PMID: 38497990 | PMCID: PMC10949148
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Complex biophysical changes and reduced neuronal firing in an SCN8A variant associated with developmental delay and epilepsy.
Quinn S, Zhang N, Fenton TA, Brusel M, Muruganandam P, Peleg Y, Giladi M, Haitin Y, Lerche H, Bassan H, Liu Y, Ben-Shalom R, Rubinstein M
Biochim Biophys Acta Mol Basis Dis, 1870(5):167127, 20 Mar 2024
Cited by: 1 article | PMID: 38519006
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Electrophysiological signatures of a developmental delay in a stem cell model ofKCNQ2developmental and epileptic encephalopathy
Rosa F, Theiss S, Krepp S, Loeffler H, Mendes D, Klingenstein S, Liebau S, Weckhuysen S, Alber M, Petrou S, Lerche H, Maljevic S, Wuttke TV
bioRxiv, 13 Mar 2024
Cited by: 0 articles | PPR: PPR822699
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Retigabine and gabapentin restore channel function and neuronal firing in a cellular model of an epilepsy-associated dominant-negative KCNQ5 variant.
Krüger J, Lerche H
Neuropharmacology, 250:109892, 29 Feb 2024
Cited by: 0 articles | PMID: 38428481
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Bi-allelic PRRT2 variants may predispose to Self-limited Familial Infantile Epilepsy.
Koko M, Elseed MA, Mohammed IN, Hamed AA, Abd Allah ASI, Yahia A, Siddig RA, Altmüller J, Toliat MR, Elmahdi EO, Amin M, Ahmed EA, Eltazi IZM, Elmugadam FA, Abdelgadir WA, Eltaraifee E, Ibrahim MOM, Ali NMH, Malik HM, [...] Lerche H
Eur J Hum Genet, 32(10):1338-1342, 05 Feb 2024
Cited by: 1 article | PMID: 38316952
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Long-term clinical course and treatment outcomes of individuals with Nodding Syndrome.
Kegele J, Wagner T, Kowenski T, Wiesmayr M, Gatterer C, Alber M, Matuja W, Schmutzhard E, Lerche H, Winkler AS
J Neurol Sci, 457:122893, 14 Jan 2024
Cited by: 0 articles | PMID: 38278097
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An interconnected data infrastructure to support large-scale rare disease research.
Johansson LF, Laurie S, Spalding D, Gibson S, Ruvolo D, Thomas C, Piscia D, de Andrade F, Been G, Bijlsma M, Brunner H, Cimerman S, Dizjikan FY, Ellwanger K, Fernandez M, Freeberg M, van de Geijn GJ, Kanninga R, Maddi V, [...] Solve-RD consortium
Gigascience, 13:giae058, 01 Jan 2024
Cited by: 0 articles | PMID: 39302238 | PMCID: PMC11413801
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Complex biophysical changes and reduced neuronal firing in anSCN8Avariant associated with developmental delay and epilepsy
Quinn S, Zhang N, Fenton TA, Brusel M, Muruganandam P, Peleg Y, Giladi M, Haitin Y, Lerche H, Bassan H, Liu Y, Ben-Shalom R, Rubinstein M
bioRxiv, 05 Dec 2023
Cited by: 0 articles | PPR: PPR768893
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Clinical and electrophysiological features of SCN8A variants causing episodic or chronic ataxia.
Lyu H, Boßelmann CM, Johannesen KM, Koko M, Ortigoza-Escobar JD, Aguilera-Albesa S, Garcia-Navas Núñez D, Linnankivi T, Gaily E, van Ruiten HJA, Richardson R, Betzler C, Horvath G, Brilstra E, Geerdink N, Orsucci D, Tessa A, Gardella E, Fleszar Z, [...] Liu Y
EBioMedicine, 98:104855, 28 Oct 2023
Cited by: 3 articles | PMID: 38251463 | PMCID: PMC10628346
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Efficacy and Safety of XEN1101, a Novel Potassium Channel Opener, in Adults With Focal Epilepsy: A Phase 2b Randomized Clinical Trial.
French JA, Porter RJ, Perucca E, Brodie MJ, Rogawski MA, Pimstone S, Aycardi E, Harden C, Qian J, Rosenblut CL, Kenney C, Beatch GN, X-TOLE Study Group
JAMA Neurol, 80(11):1145-1154, 01 Nov 2023
Cited by: 7 articles | PMID: 37812429 | PMCID: PMC10562989
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Voltage-gated calcium channels in genetic epilepsies.
Lauerer RJ, Lerche H
J Neurochem, 11 Oct 2023
Cited by: 3 articles | PMID: 37822150
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Axonopathy and altered synaptic development in early hippocampal epileptogenesis of Dravet syndrome
Layer N, Müller P, Ayash M, Pfeiffer F, Saile M, Klopfer F, Iavarone S, Santuy A, Fallier-Becker P, Hedrich UBS, Lerche H, Koch H, Wuttke TV
bioRxiv, 05 Oct 2023
Cited by: 0 articles | PPR: PPR736808
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GAA-FGF14 ataxia (SCA27B): phenotypic profile, natural history progression and 4-aminopyridine treatment response.
Wilke C, Pellerin D, Mengel D, Traschütz A, Danzi MC, Dicaire MJ, Neumann M, Lerche H, Bender B, Houlden H, RFC1 study group, Züchner S, Schöls L, Brais B, Synofzik M
Brain, 146(10):4144-4157, 01 Oct 2023
Cited by: 23 articles | PMID: 37165652
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Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
Boothman I, Clayton LM, McCormack M, Driscoll AM, Stevelink R, Moloney P, Krause R, Kunz WS, Diehl S, O'Brien TJ, Sills GJ, de Haan GJ, Zara F, Koeleman BP, Depondt C, Marson AG, Stefansson H, Stefansson K, Craig J, [...] Cavalleri GL
Front Neurosci, 17:1156362, 08 Sep 2023
Cited by: 0 articles | PMID: 37790589 | PMCID: PMC10542409
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Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Park J, Tucci A, Cipriani V, Demidov G, Rocca C, Senderek J, Butryn M, Velic A, Lam T, Galanaki E, Cali E, Vestito L, Maroofian R, Deininger N, Rautenberg M, Admard J, Hahn GA, Bartels C, van Os NJH, [...] Hengel H
Genet Med, 25(10):100961, 31 Aug 2023
Cited by: 0 articles | PMID: 37650884
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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.
International League Against Epilepsy Consortium on Complex Epilepsies
Nat Genet, 55(9):1471-1482, 31 Aug 2023
Cited by: 32 articles | PMID: 37653029 | PMCID: PMC10484785
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