Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes.
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| Title: | Whole exome sequencing identifies a novel SCN1A mutation in genetic (idiopathic) generalized epilepsy and juvenile myoclonic epilepsy subtypes. |
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| Authors: | Chan CK; Division of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia., Low JS; Division of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia.; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia., Lim KS; Division of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. kslimum@gmail.com., Low SK; Cancer Precision Medicine Center, Japanese Foundation for Cancer Research, Tokyo, Japan., Tan CT; Division of Neurology, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia., Ng CC; Genetics and Molecular Biology, Institute of Biological Sciences, Faculty of Science, University of Malaya, Kuala Lumpur, Malaysia. ccng@um.edu.my. |
| Source: | Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology [Neurol Sci] 2020 Mar; Vol. 41 (3), pp. 591-598. Date of Electronic Publication: 2019 Nov 13. |
| Publication Type: | Case Reports; Journal Article |
| Journal Info: | Publisher: Springer-Verlag Italia Country of Publication: Italy NLM ID: 100959175 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1590-3478 (Electronic) Linking ISSN: 15901874 NLM ISO Abbreviation: Neurol Sci Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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