De novo variants in KCNA3 cause developmental and epileptic encephalopathy (English)
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In:
Annals of Neurology
;
95
, 2
;
365-376
;
2024
- Article (Journal) / Electronic Resource
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Title:De novo variants in KCNA3 cause developmental and epileptic encephalopathy
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Contributors:Soldovieri, Maria Virginia ( author ) / Ambrosino, Paolo ( author ) / Mosca, Ilaria ( author ) / Servettini, Ilenio ( author ) / Pietrunti, Francesca ( author ) / Belperio, Giorgio ( author ) / Bast, Thomas ( participant ) / Benke, Paul J ( participant ) / Dietel, Tobias ( participant ) / Ellard, Sian ( participant )
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Published in:Annals of Neurology ; 95, 2 ; 365-376
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Publisher:
- New search for: John Wiley & Sons, Inc.
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Publication date:2024-02-01
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Size:12 pages
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ISSN:
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DOI:
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Type of media:Article (Journal)
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Type of material:Electronic Resource
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Language:English
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Source:
Table of contents – Volume 95, Issue 2
The tables of contents are generated automatically and are based on the data records of the individual contributions available in the index of the TIB portal. The display of the Tables of Contents may therefore be incomplete.
- 211
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Biomarker Qualification for Neurofilament Light Chain in Amyotrophic Lateral Sclerosis: Theory and PracticeBenatar, Michael / Ostrow, Lyle W. / Lewcock, Joseph W / Bennett, Frank / Shefner, Jeremy / Bowser, Robert / Larkin, Paul / Bruijn, Lucie / Wuu, Joanne et al. | 2024
- 217
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Higher Glycemic Index and Glycemic Load Diet Is Associated with Slower Disease Progression in Amyotrophic Lateral SclerosisLee, Ikjae / Mitsumoto, Hiroshi / Lee, Seonjoo / Kasarskis, Edward / Rosenbaum, Michael / Factor‐Litvak, Pam / Nieves, Jeri W. et al. | 2024
- 230
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Disease‐Modifying Drugs Extend Survival in Hereditary Transthyretin Amyloid PolyneuropathyUeda, Mitsuharu / Misumi, Yohei / Nomura, Toshiya / Tasaki, Masayoshi / Yamakawa, Shiori / Obayashi, Konen / Yamashita, Taro / Ando, Yukio et al. | 2024
- 237
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Improving Early Recognition of Treatment‐Responsive Causes of Rapidly Progressive Dementia: The STAM3P ScoreSatyadev, Nihal / Tipton, Philip W. / Martens, Yuka / Dunham, S. Richard / Geschwind, Michael D. / Morris, John C. / Brier, Matthew R. / Graff‐Radford, Neill R. / Day, Gregory S. et al. | 2024
- 249
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Regional Tau Deposition Reflects Different Pathways of Subsequent Neurodegeneration and Memory Decline in Cognitively Normal Older AdultsChen, Xi / Toueg, Tyler N. / Harrison, Theresa M. / Baker, Suzanne L. / Jagust, William J. et al. | 2024
- 260
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Proteomic Indicators of Health Predict Alzheimer's Disease Biomarker Levels and Dementia RiskDark, Heather E. / Paterson, Clare / Daya, Gulzar N. / Peng, Zhongsheng / Duggan, Michael R. / Bilgel, Murat / An, Yang / Moghekar, Abhay / Davatzikos, Christos / Resnick, Susan M. et al. | 2024
- 274
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Combined Connectomics, MAPT Gene Expression, and Amyloid Deposition to Explain Regional Tau Deposition in Alzheimer DiseaseZheng, Lukai / Rubinski, Anna / Denecke, Jannis / Luan, Ying / Smith, Ruben / Strandberg, Olof / Stomrud, Erik / Ossenkoppele, Rik / Svaldi, Diana Otero / Higgins, Ixavier Alonzo et al. | 2024
- 288
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Eligibility Rates among Racially and Ethnically Diverse US Participants in Phase 2 and Phase 3 Placebo‐Controlled, Double‐Blind, Randomized Trials of Lecanemab and Elenbecestat in Early Alzheimer DiseaseGrill, Joshua D. / Flournoy, Charlene / Dhadda, Shobha / Ernstrom, Karin / Sperling, Reisa / Molina‐Henry, Doris / Tranotti, Kate / Harris, Russell / Kanekiyo, Michio / Gee, Michelle et al. | 2024
- 299
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Diagnostic Utility of Cerebrospinal Fluid Biomarkers in Patients with Rapidly Progressive DementiaKuchenbecker, Lindsey A. / Tipton, Philip W. / Martens, Yuka / Brier, Matthew R. / Satyadev, Nihal / Dunham, S. Richard / Lazar, Evelyn B. / Dacquel, Maxwell V. / Henson, Rachel L. / Bu, Guojun et al. | 2024
- 314
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Relative Contributions of Mixed Pathologies to Cognitive and Functional Symptoms in Brain Donors Exposed to Repetitive Head ImpactsSaltiel, Nicole / Tripodis, Yorghos / Menzin, Talia / Olaniyan, Aliyah / Baucom, Zach / Yhang, Eukyung / Palmisano, Joseph N. / Martin, Brett / Uretsky, Madeline / Nair, Evan et al. | 2024
- 325
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Deep Resequencing of the 1q22 Locus in Non‐Lobar Intracerebral HemorrhageParodi, Livia / Comeau, Mary E. / Georgakis, Marios K. / Mayerhofer, Ernst / Chung, Jaeyoon / Falcone, Guido J. / Malik, Rainer / Demel, Stacie L. / Worrall, Bradford B. / Koch, Sebastian et al. | 2024
- 338
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Association of the Timing of Atrial Fibrillation Detection and Insular Involvement With the Risk of Embolic Events After Acute Ischemic StrokeTokunaga, Keisuke / Toyoda, Kazunori / Kimura, Shunsuke / Minematsu, Kazuo / Yasaka, Masahiro / Okada, Yasushi / Yoshimura, Sohei / Koga, Masatoshi / the SAMURAI‐NVAF and RELAXED investigators et al. | 2024
- 347
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Strokes Averted by Intravenous Thrombolysis: A Secondary Analysis of a Prospective, Multicenter, Controlled Trial of Mobile Stroke UnitsNavi, Babak B. / Bach, Ivo / Czap, Alexandra L. / Wang, Mengxi / Yamal, Jose‐Miguel / Jacob, Asha P. / Parker, Stephanie A. / Rajan, Suja S. / Mir, Saad / Sherman, Carla et al. | 2024
- 362
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Endovascular Thrombectomy for a Progressive Stroke Patient With a High‐Burden Carotid Free‐Floating ThrombusHou, Zhikai / Cui, Rongrong / Yu, Ying / Ma, Ning et al. | 2024
- 365
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De novo variants in KCNA3 cause developmental and epileptic encephalopathySoldovieri, Maria Virginia / Ambrosino, Paolo / Mosca, Ilaria / Servettini, Ilenio / Pietrunti, Francesca / Belperio, Giorgio / Syrbe, Steffen / Taglialatela, Maurizio / Lemke, Johannes R / KCNA3 study group et al. | 2024
- 377
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Determinants of Functional Outcome after Pediatric HemispherotomyRamantani, Georgia / Cserpan, Dorottya / Tisdall, Martin / Otte, Willem M. / Dorfmüller, Georg / Cross, J. Helen / van Schooneveld, Monique / van Eijsden, Pieter / Nees, Frauke / Reuner, Gitta et al. | 2024
- 388
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Hippocampal Perfusion Affects Motor and Cognitive Functions in Parkinson Disease: An Early Phase 18F‐FP‐CIT Positron Emission Tomography StudyChun, Min Young / Chung, Seok Jong / Kim, Su Hong / Park, Chan Wook / Jeong, Seong Ho / Lee, Hye Sun / Lee, Phil Hyu / Sohn, Young H. / Jeong, Yong / Kim, Yun Joong et al. | 2024
- 400
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Stage‐Dependent Biomarker Changes in Spinocerebellar Ataxia Type 3Faber, Jennifer / Berger, Moritz / Wilke, Carlo / Hubener‐Schmid, Jeannette / Schaprian, Tamara / Santana, Magda M. / Grobe‐Einsler, Marcus / Onder, Demet / Koyak, Berkan / Giunti, Paola et al. | 2024
- 407
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Supratentorial Lymphocytic Inflammation with Parenchymal Perivascular Enhancement Responsive to Steroids: A Potentially Overlooked DiagnosisTsibonakis, Athanasios / Theodorou, Aikaterini / Korkolopoulou, Penelope / Tsivgoulis, Georgios et al. | 2024
- 410
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A Letter Concerning a Role for Blood–Brain Barrier Dysfunction in Delirium following Noncardiac Surgery in Older AdultsLe Guennec, Loic / Balcerac, Alexander / Weiss, Nicolas et al. | 2024
- 411
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Reply to “A Letter Concerning a Role for Blood–Brain Barrier Dysfunction in Delirium following Noncardiac Surgery in Older Adults”Devinney, Michael J. / Berger, Miles et al. | 2024
- 413
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Chance Bias Arising from TSC2 Mutation Imbalance in the PREVeNT TrialSamanta, Debopam et al. | 2024
- 414
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Reply to “Chance Bias Arising from TSC2 Mutation Imbalance in the PREVeNT Trial”Bebin, E. Martina et al. | 2024
- 415
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Myelin Oligodendrocyte Glycoprotein Antibody‐Positive Patients Meeting the 2017 McDonald Criteria for Multiple Sclerosis: Challenges in Diagnosis and Treatment DecisionsKim, Sohyeon / Eun, Mi‐Yeon / Lee, Jae‐Joon / Seok, Hung Youl et al. | 2024
- 415
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Reply to “Myelin Oligodendrocyte Glycoprotein Antibody‐Positive Patients Meeting the 2017 McDonald Criteria for Multiple Sclerosis: Challenges in Diagnosis and Treatment Decisions”Villacieros‐Álvarez, Javier / Espejo, Carmen / Cobo‐Calvo, Álvaro et al. | 2024
- 417
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Correction to Lyden P, Pryor KE, Coffey CS, et al. Final results of the RHAPSODY trial: a multi‐center, phase 2 trial using a continual reassessment method to determine the safety and tolerability of 3K3A‐APC, a recombinant variant of human activated protein C, in combination with tissue plasminogen activator, mechanical thrombectomy or both in moderate to severe acute ischemic stroke. Ann Neurol 2019;85:125–136.| 2024
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Annals of Neurology: Volume 95, Number 2, February 2024| 2024
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Issue Information| 2024