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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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Early mortality in STXBP1-related disorders.
Furia F, Rigby CS, Scheffer IE, Allen N, Baker K, Hengsbach C, Kegele J, Goss J, Gorman K, Mala MI, Nicita F, Allan T, Spalice A, Weber Y, European STXBP1 consortium (ESCO), STXBP1 foundation, Rubboli G, Møller RS, Gardella E
Neurol Sci, 11 Oct 2024
Cited by: 0 articles | PMID: 39392525
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Active infection with Onchocerca volvulus and the linkage to epilepsy/nodding syndrome.
Arndts K, Kegele J, Ritter M, Prazeres da Costa C, Hoerauf A, Winkler AS
PLoS Negl Trop Dis, 18(5):e0012076, 09 May 2024
Cited by: 0 articles | PMID: 38722927 | PMCID: PMC11081337
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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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Defining benchmark outcomes for mesial temporal lobe epilepsy surgery: A global multicenter analysis of 1119 cases.
Drexler R, Ricklefs FL, Ben-Haim S, Rada A, Wörmann F, Cloppenborg T, Bien CG, Simon M, Kalbhenn T, Colon A, Rijkers K, Schijns O, Borger V, Surges R, Vatter H, Rizzi M, de Curtis M, Didato G, Castelli N, [...] Sauvigny T
Epilepsia, 65(5):1333-1345, 24 Feb 2024
Cited by: 1 article | PMID: 38400789
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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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Breath-Hold-Triggered BOLD fMRI in Drug-Resistant Nonlesional Focal Epilepsy-A Pilot Study.
Boßelmann CM, Kegele J, Zerweck L, Klose U, Ethofer S, Roder C, Grimm AM, Hauser TK
Clin Neuroradiol, 34(2):315-324, 11 Dec 2023
Cited by: 2 articles | PMID: 38082172 | PMCID: PMC11130005
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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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Epilepsy and nodding syndrome in association with an Onchocerca volvulus infection drive distinct immune profile patterns.
Arndts K, Kegele J, Massarani AS, Ritter M, Wagner T, Pfarr K, Lämmer C, Dörmann P, Peisker H, Menche D, Al-Bahra M, Prazeres da Costa C, Schmutzhard E, Matuja W, Hoerauf A, Layland-Heni LE, Winkler AS
PLoS Negl Trop Dis, 17(8):e0011503, 03 Aug 2023
Cited by: 3 articles | PMID: 37535695 | PMCID: PMC10426931
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Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.
Montanucci L, Lewis-Smith D, Collins RL, Niestroj LM, Parthasarathy S, Xian J, Ganesan S, Macnee M, Brünger T, Thomas RH, Talkowski M, Epi25 Collaborative, Helbig I, Leu C, Lal D
Nat Commun, 14(1):4392, 20 Jul 2023
Cited by: 8 articles | PMID: 37474567 | PMCID: PMC10359300
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Focal Cortex Stimulation With a Novel Implantable Device and Antiseizure Outcomes in 2 Prospective Multicenter Single-Arm Trials.
Schulze-Bonhage A, Hirsch M, Knake S, Kaufmann E, Kegele J, Rademacher M, Vonck K, Coenen VA, Glaser M, Jenkner C, Winter Y, Groppa S, EASEE Study Group
JAMA Neurol, 80(6):588-596, 01 Jun 2023
Cited by: 9 articles | PMID: 37010826 | PMCID: PMC10071400
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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.
Yaldiz B, Kucuk E, Hampstead J, Hofste T, Pfundt R, Corominas Galbany J, Rinne T, Yntema HG, Hoischen A, Nelen M, Gilissen C, Solve-RD consortium
Hum Genomics, 17(1):39, 03 May 2023
Cited by: 4 articles | PMID: 37138343 | PMCID: PMC10155375
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A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, [...] Faivre L
Genet Med, 25(4):100018, 20 Jan 2023
Cited by: 4 articles | PMID: 36681873
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Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.
Krüger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, Seebohm G, Yan P, Koko M, Aslan-Kara K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, Hildebrand MS, Petrou S, Krause R, May P, [...] Lerche H
EBioMedicine, 84:104244, 09 Sep 2022
Cited by: 3 articles | PMID: 36088682 | PMCID: PMC9471468
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Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.
Johannesen KM, Liu Y, Koko M, Gjerulfsen CE, Sonnenberg L, Schubert J, Fenger CD, Eltokhi A, Rannap M, Koch NA, Lauxmann S, Krüger J, Kegele J, Canafoglia L, Franceschetti S, Mayer T, Rebstock J, Zacher P, Ruf S, [...] Møller RS
Brain, 145(9):2991-3009, 01 Sep 2022
Cited by: 46 articles | PMID: 34431999 | PMCID: PMC10147326
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Ictal Electroencephalographic Characteristics of Nodding Syndrome: A Comparative Case-Series from South Sudan, Tanzania, and Uganda.
Mazumder R, Lagoro DK, Nariai H, Danieli A, Eliashiv D, Engel J, Dalla Bernardina B, Kegele J, Lerche H, Sejvar J, Matuja W, Schmutzhard E, Bonanni P, De Polo G, Wagner T, Winkler AS
Ann Neurol, 92(1):75-80, 07 May 2022
Cited by: 2 articles | PMID: 35438201 | PMCID: PMC9544008
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Enhancing Safety in Epilepsy Surgery (EASINESS): Study Protocol for a Retrospective, Multicenter, Open Registry.
Drexler R, Ben-Haim S, Bien CG, Borger V, Cardinale F, Carpentier A, Cendes F, Chandra S, Clusmann H, Colon A, de Curtis M, Delev D, Didato G, Dührsen L, Farah JO, Guenot M, Ghatan S, Haegelen C, Hamer H, [...] Sauvigny T
Front Neurol, 12:782666, 13 Dec 2021
Cited by: 1 article | PMID: 34966349 | PMCID: PMC8710656
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Epi25 Collaborative. Electronic address: [email protected], Epi25 Collaborative
Am J Hum Genet, 108(10):2024, 01 Oct 2021
Cited by: 0 articles | PMID: 34626584 | PMCID: PMC8546036
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Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.
Lauxmann S, Sonnenberg L, Koch NA, Bosselmann C, Winter N, Schwarz N, Wuttke TV, Hedrich UBS, Liu Y, Lerche H, Benda J, Kegele J
Front Neurol, 12:703970, 09 Sep 2021
Cited by: 11 articles | PMID: 34566847 | PMCID: PMC8459024
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Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.
Kegele J, Krüger J, Koko M, Lange L, Marco Hernandez AV, Martinez F, Münchau A, Lerche H, Lauxmann S
Front Neurol, 12:701351, 08 Jul 2021
Cited by: 2 articles | PMID: 34305802 | PMCID: PMC8297685
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Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.
Epi25 Collaborative. Electronic address: [email protected], Epi25 Collaborative
Am J Hum Genet, 108(6):965-982, 30 Apr 2021
Cited by: 22 articles | PMID: 33932343 | PMCID: PMC8206159
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Frame-based and robot-assisted insular stereo-electroencephalography via an anterior or posterior oblique approach.
Machetanz K, Grimm F, Wuttke TV, Kegele J, Lerche H, Tatagiba M, Rona S, Gharabaghi A, Honegger J, Naros G
J Neurosurg, 135(5):1477-1486, 30 Apr 2021
Cited by: 8 articles | PMID: 33930861
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Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies
Krüger J, Schubert J, Kegele J, Labalme A, Mao M, Heighway J, Seebohm G, Yan P, Koko M, Aslan K, Caglayan H, Steinhoff BJ, Weber YG, Keo-Kosal P, Berkovic SF, Hildebrand MS, Petrou S, Krause R, May P, [...] Lerche H
medRxiv, 20 Apr 2021
Cited by: 0 articles | PPR: PPR314285
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1-25 of 34 results

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

Search results

Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses.

Exome Sequencing of Consanguineous Pashtun Families With Familial Epilepsy Reveals Causative and Candidate Variants in TSEN54, MOCS2, and OPHN1.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Early mortality in STXBP1-related disorders.

Active infection with Onchocerca volvulus and the linkage to epilepsy/nodding syndrome.

Long-term clinical course and treatment outcomes of individuals with Nodding Syndrome.

Defining benchmark outcomes for mesial temporal lobe epilepsy surgery: A global multicenter analysis of 1119 cases.

An interconnected data infrastructure to support large-scale rare disease research.

Breath-Hold-Triggered BOLD fMRI in Drug-Resistant Nonlesional Focal Epilepsy-A Pilot Study.

GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture.

Epilepsy and nodding syndrome in association with an Onchocerca volvulus infection drive distinct immune profile patterns.

Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals.

Focal Cortex Stimulation With a Novel Implantable Device and Antiseizure Outcomes in 2 Prospective Multicenter Single-Arm Trials.

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing.

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications.

Ictal Electroencephalographic Characteristics of Nodding Syndrome: A Comparative Case-Series from South Sudan, Tanzania, and Uganda.

Enhancing Safety in Epilepsy Surgery (EASINESS): Study Protocol for a Retrospective, Multicenter, Open Registry.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Therapeutic Potential of Sodium Channel Blockers as a Targeted Therapy Approach in KCNA1-Associated Episodic Ataxia and a Comprehensive Review of the Literature.

Genetics of Paroxysmal Dyskinesia: Novel Variants Corroborate the Role of KCNA1 in Paroxysmal Dyskinesia and Highlight the Diverse Phenotypic Spectrum of KCNA1- and SLC2A1-Related Disorders.

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals.

Frame-based and robot-assisted insular stereo-electroencephalography via an anterior or posterior oblique approach.

Loss-of-function variants in the KCNQ5 gene are associated with genetic generalized epilepsies

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