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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
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  Data: <searchLink fieldCode="AU" term="%22Schröter+J%22">Schröter J</searchLink>; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Popp+B%22">Popp B</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Brennenstuhl+H%22">Brennenstuhl H</searchLink>; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Döring+JH%22">Döring JH</searchLink>; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Donze+SH%22">Donze SH</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bijlsma+EK%22">Bijlsma EK</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Haeringen+A%22">van Haeringen A</searchLink>; Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Huhle+D%22">Huhle D</searchLink>; Medizinisches Versorgungszentrum, Karl-Liebknecht-Str. 14, 04107, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Jestaedt+L%22">Jestaedt L</searchLink>; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Merkenschlager+A%22">Merkenschlager A</searchLink>; Department of Women and Child Health, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Arelin+M%22">Arelin M</searchLink>; Department of Women and Child Health, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Gräfe+D%22">Gräfe D</searchLink>; Department of Pediatric Radiology, Hospital for Children and Adolescents, University Hospital Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Neuser+S%22">Neuser S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Oates+S%22">Oates S</searchLink>; King's College Hospital, London, UK.; Evelina London Children's Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Pal+DK%22">Pal DK</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Parker+MJ%22">Parker MJ</searchLink>; Sheffield Children's Hospital NHS Foundation Trust, Western Bank, Sheffield, UK.<br /><searchLink fieldCode="AU" term="%22Lemke+JR%22">Lemke JR</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Hoffmann+GF%22">Hoffmann GF</searchLink>; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Kölker+S%22">Kölker S</searchLink>; Division of Neuropediatrics and Inherited Metabolic Diseases, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Harting+I%22">Harting I</searchLink>; Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.<br /><searchLink fieldCode="AU" term="%22Syrbe+S%22">Syrbe S</searchLink>; Division of Pediatric Epileptology, Center for Pediatrics and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Steffen.Syrbe@med.uni-heidelberg.de.
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  Data: <searchLink fieldCode="JN" term="%229302235%22">European journal of human genetics : EJHG</searchLink> [Eur J Hum Genet] 2022 Mar; Vol. 30 (3), pp. 298-306. <i>Date of Electronic Publication: </i>2022 Jan 11.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Publishing+Group%22">Nature Publishing Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9302235 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1476-5438 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210184813%22">10184813 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Hum Genet <i>Subsets: </i>MEDLINE
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