The clinical characters and gene detection in a familial temporal lobe epilepsy with auditory aura |
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| Affiliation: | 1. Department of Pediatrics, Xuanwu Hospital, Capital Medical University, Beijing, China;2. Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, China;3. Beijing Key Laboratory of Neuromodulation, Beijing, China;1. Department of Paediatrics, The Chinese University of Hong Kong, Hong Kong;2. Hong Kong Hub of Paediatric Excellence, The Chinese University of Hong Kong, Hong Kong;3. Allergy Centre, Hong Kong Sanatorium and Hospital, Hong Kong;4. Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, Hong Kong;5. Department of Paediatrics, Queen Elizabeth Hospital, Kowloon, Hong Kong;1. Department of Orthopedic Surgery, NYU Langone Orthopedic Hospital, New York, NY, USA;2. Departments of Orthopedic and Neurologic Surgery, NYU Langone Orthopedic Hospital, New York Spine Institute, New York, NY, USA;3. Department of Orthopedic Surgery, Hospital for Special Surgery, New York, NY, USA;4. Department of Neurosurgery, University of Virginia Medical Center, Charlottesville, VA, USA;5. Rocky Mountain Scoliosis and Spine, Denver, CO, USA;6. Department of Orthopaedic Surgery, University of California, San Francisco, San Francisco, CA, USA;7. San Diego Center for Spinal Disorders, La Jolla, CA, USA;8. Department of Orthopaedic Surgery, Washington University, St. Louis, MO, USA;9. Department of Orthopaedic Surgery, Warren Alpert School of Medicine, Brown University, Providence, RI, USA;10. Department of Orthopedic Surgery, University of California, Davis, Davis, CA, USA;11. Department of Orthopedic Surgery, University of Kansas Medical Center, Kansas City, KS, USA;12. Department of Orthopedic Surgery, Swedish Neuroscience Institute, Seattle, WA, USA;13. Rocky Mountain Scoliosis and Spine, Denver, CO, USA;14. Department of Neurological Surgery, University of California, San Francisco, San Francisco, CA, USA |
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| Abstract: | Auditory aura was the very important clinical character in familial temporal Lobe epilepsy. LGI1 was the main pathogenic gene. The inheritance mode of this disease was autosomal dominant. We describes the clinical characters and gene detection in 7 patients in a temporal lobe epilepsy family with auditory aura. All patients in this family were diagnosed as temporal lobe epilepsy and had the same mutation: the splice site mutation in No. 2 base of the intron after the first exon in gene LGI1, c.215+2T>A, which induced the abnormal expression of peptide protein after the No. 71 amino acid encoded by LGI1. Some of the antiepileptic drugs, such as carbamazepine, oxcarbazepine, could be effective. |
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| Keywords: | Familial lateral temporal lobe epilepsy Auditory aura LGI1 gene Autosomal dominant epilepsy Gene detection |
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