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De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.

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Title: De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
Authors: Stringer RN; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic., Jurkovicova-Tarabova B; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia., Souza IA; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada., Ibrahim J; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates., Vacik T; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic., Fathalla WM; Department of Pediatric Neurology, Mafraq Hospital, Abu Dhabi, United Arab Emirates., Hertecant J; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates., Zamponi GW; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada., Lacinova L; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia., Weiss N; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic. nalweiss@gmail.com.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic. nalweiss@gmail.com.; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia. nalweiss@gmail.com.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic. nalweiss@gmail.com.
Source: Molecular brain [Mol Brain] 2021 Aug 16; Vol. 14 (1), pp. 126. Date of Electronic Publication: 2021 Aug 16.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101468876 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-6606 (Electronic) Linking ISSN: 17566606 NLM ISO Abbreviation: Mol Brain Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
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  Data: <searchLink fieldCode="AU" term="%22Stringer+RN%22">Stringer RN</searchLink>; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Jurkovicova-Tarabova+B%22">Jurkovicova-Tarabova B</searchLink>; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.<br /><searchLink fieldCode="AU" term="%22Souza+IA%22">Souza IA</searchLink>; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Ibrahim+J%22">Ibrahim J</searchLink>; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Vacik+T%22">Vacik T</searchLink>; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Fathalla+WM%22">Fathalla WM</searchLink>; Department of Pediatric Neurology, Mafraq Hospital, Abu Dhabi, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Hertecant+J%22">Hertecant J</searchLink>; Department of Pediatrics, Tawam Hospital, Al-Ain, United Arab Emirates.; Department of Pediatrics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates.<br /><searchLink fieldCode="AU" term="%22Zamponi+GW%22">Zamponi GW</searchLink>; Department of Physiology and Pharmacology, Cumming School of Medicine, University of Calgary, Calgary, Canada.<br /><searchLink fieldCode="AU" term="%22Lacinova+L%22">Lacinova L</searchLink>; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia.<br /><searchLink fieldCode="AU" term="%22Weiss+N%22">Weiss N</searchLink>; Department of Pathophysiology, Third Faculty of Medicine, Charles University, Prague, Czech Republic. nalweiss@gmail.com.; Institute of Organic Chemistry and Biochemistry, Czech Academy of Sciences, Prague, Czech Republic. nalweiss@gmail.com.; Center of Biosciences, Institute of Molecular Physiology and Genetics, Slovak Academy of Sciences, Bratislava, Slovakia. nalweiss@gmail.com.; Institute of Biology and Medical Genetics, First Faculty of Medicine, Charles University, Prague, Czech Republic. nalweiss@gmail.com.
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  Data: <searchLink fieldCode="JN" term="%22101468876%22">Molecular brain</searchLink> [Mol Brain] 2021 Aug 16; Vol. 14 (1), pp. 126. <i>Date of Electronic Publication: </i>2021 Aug 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101468876 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-6606 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217566606%22">17566606 </searchLink><i>NLM ISO Abbreviation: </i>Mol Brain <i>Subsets: </i>MEDLINE
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=34399820
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              Text: 2021 Aug 16
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