De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.
Saved in:
| 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 |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 1756-6606 |
|---|---|
| DOI: | 10.1186/s13041-021-00838-y |
