Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.

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Title: Complementing the phenotypical spectrum of TUBA1A tubulinopathy and its role in early-onset epilepsies.
Authors: Schröter J; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Popp B; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Brennenstuhl H; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Döring JH; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Donze SH; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., van Haeringen A; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands., Huhle D; Medizinisches Versorgungszentrum, Karl-Liebknecht-Str. 14, 04107, Leipzig, Germany., Jestaedt L; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany., Merkenschlager A; Department of Women and Child Health, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany., Arelin M; Department of Women and Child Health, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany., Gräfe D; Department of Pediatric Radiology, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oates S; King's College Hospital, London, UK.; Evelina London Children's Hospital, London, UK., Pal DK; King's College Hospital, London, UK.; Evelina London Children's Hospital, London, UK.; Department of Basic & Clinical Neurosciences, Institute of Psychiatry, Psychology & Neuroscience, King's College London, London, UK.; MRC Centre for Neurodevelopmental Disorders, King's College London, London, UK., Parker MJ; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Hoffmann GF; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Kölker S; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany., Harting I; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany., Syrbe S; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Steffen.Syrbe@med.uni-heidelberg.de.
Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Mar; Vol. 30 (3), pp. 298-306. Date of Electronic Publication: 2022 Jan 11.
Publication Type: Journal Article; Multicenter Study; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1476-5438
DOI:10.1038/s41431-021-01027-0