李秀芬醫師
引用
醫師個人簡介
主治專長
兒童神經發展、
兒童癲癇、
兒童頑固性癲癇、
兒童神經疑難罕重症、
兒童神經代謝疾患、
兒童神經基因疾病
兒童癲癇、
兒童頑固性癲癇、
兒童神經疑難罕重症、
兒童神經代謝疾患、
兒童神經基因疾病
專業經驗
現任:臺中榮民總醫院兒童醫學中心兒童神經科主任
中興大學醫學院學士後醫學系副教授
曾任:臺中榮民總醫院兒童醫學中心兒童神經科主治醫師
中興大學醫學院學士後醫學系副教授
曾任:臺中榮民總醫院兒童醫學中心兒童神經科主治醫師
重要經歷/進修訓練
臺中榮民總醫院兒童醫學中心兒童急重症科科主任
學歷
中山醫學大學生化暨生物科技所博士班畢業
高雄醫學大學醫學院醫學系畢業
高雄醫學大學醫學院醫學系畢業
專科證照
小兒科專科醫師
小兒神經科專科醫師
兒童急診專科醫師
小兒神經科專科醫師
兒童急診專科醫師
教師資格
中興大學醫學院學士後醫學系副教授
教育部部定副教授
教育部部定副教授
研究興趣
兒童癲癇、兒童頑固性癲癇、兒童神經疑難罕見重症疾病、兒童神經基因學
代表作
* Corresponding author
1. Yang YL, Lee HF*, Chi CS, Tsai CR, Wu PY, Liu SN. Cerebellar atrophy in genetic epileptic encephalopathies: a cohort study and a systematic review. Seizure: European Journal of Epilepsy. 2024; 120:41-48
2. Chi CS, Tsai CR, Lee HF*. Resolving unsolved whole-genome sequencing data in pediatric neurological disorders: a cohort study. Arch Dis Child 2024; 109:730-735
3. Lee HF*, Chi CS. Congenital disorders of glycosylation and infantile epilepsy. Epilepsy Behav 2023; 142: 109214
4. Chi CS, Tsai CR, Lee HF*. Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation. Hum Genet 2023;142:1029-1041. (Chi CS and Tsai CR as co-first authors).
5. Wu PY, Chi CS, Tsai CR, Yang YL, Lee HF*. Long-term outcome of pediatric patients with anti-NMDA receptor encephalitis in a single center. Children 2023; 10: 182.
6. Chi CS, Lee HF*, Tsai CR. Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review. Brain Sci 2022; 12: 1262.
7. Lee HF, Chi CS*, Tsai CR. Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous mutation-related developmental and epileptic encephalopathy. Clin Neurol Neurosurg 2022; 214: 107142.
8. Lee HF, Hsu CC, Chi CS*, Tsai CR. Genotype-phenotype dissociation in two Taiwanese children with molybdenum cofactor deficiency caused by MOCS2 mutation. Neuropediatrics 2022; 53(03): 200-203.
1. Yang YL, Lee HF*, Chi CS, Tsai CR, Wu PY, Liu SN. Cerebellar atrophy in genetic epileptic encephalopathies: a cohort study and a systematic review. Seizure: European Journal of Epilepsy. 2024; 120:41-48
2. Chi CS, Tsai CR, Lee HF*. Resolving unsolved whole-genome sequencing data in pediatric neurological disorders: a cohort study. Arch Dis Child 2024; 109:730-735
3. Lee HF*, Chi CS. Congenital disorders of glycosylation and infantile epilepsy. Epilepsy Behav 2023; 142: 109214
4. Chi CS, Tsai CR, Lee HF*. Biallelic SHQ1 variants in early infantile hypotonia and paroxysmal dystonia as the leading manifestation. Hum Genet 2023;142:1029-1041. (Chi CS and Tsai CR as co-first authors).
5. Wu PY, Chi CS, Tsai CR, Yang YL, Lee HF*. Long-term outcome of pediatric patients with anti-NMDA receptor encephalitis in a single center. Children 2023; 10: 182.
6. Chi CS, Lee HF*, Tsai CR. Clinico-Radiological Phenotype of UBTF c.628G>A Pathogenic Variant-Related Neurodegeneration in Childhood: A Case Report and Literature Review. Brain Sci 2022; 12: 1262.
7. Lee HF, Chi CS*, Tsai CR. Intrafamilial phenotypic variability in TBC1D24-TLDc homozygous mutation-related developmental and epileptic encephalopathy. Clin Neurol Neurosurg 2022; 214: 107142.
8. Lee HF, Hsu CC, Chi CS*, Tsai CR. Genotype-phenotype dissociation in two Taiwanese children with molybdenum cofactor deficiency caused by MOCS2 mutation. Neuropediatrics 2022; 53(03): 200-203.
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