| 1. |
Borghi R, Magliocca V, Petrini S, et al. Dissecting the role of PCDH19 in clustering epilepsy by exploiting patient-specific models of neurogenesis. Clinical Medicine, 2021, 10: 2754.
|
| 2. |
Compagnucci C, Petrini S, Higuraschi N, et al. Characterizing PCDH19 in human induced pluripotent stem cells(iPSCs)and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis. Oncotarget, 2015, 6(29): 26804-26813.
|
| 3. |
Smith L, Singhal N, El Achkar CM, et al. PCDH19-related epilepsy is associated with a broad neurodevelopmental spectrum. Epilepsia, 2018, 59(3): 679-689.
|
| 4. |
Higurashi N, Takahashi Y, Kashimada A, et al. Immediate suppression of seizure clusters by corticosteroids in PCDH19 female epilepsy. Seizure, 2015, 27: 1-5.
|
| 5. |
Moncayo J A, Ayala I N, Argudo J M, et al. Understanding protein Protocadherin-19 (PCDH19) syndrome: a literature review of the pathophysiology. Cureus, 2022, 14(6): e25808.
|
| 6. |
張曉莉, 韓瑞, 牛國輝, 等. PCDH19基因突變相關癲癇的臨床和遺傳學特點研究. 中華實用兒科臨床雜志, 2020, 35(16): 1256-1259.
|
| 7. |
Debopam Samanta. PCDH19-related epilepsy syndrome: a comprehensive clinical review. Pediatr Neurol, 2020, 105: 3-9.
|
| 8. |
徐瑜欣, 鐘建民. 熱敏感相關癲癇的早期識別與診斷. 中國當代兒科雜志, 2021, 23(7): 749-754.
|
| 9. |
Scheffer I E, Turner S J, Dibbens L, et al. Epilepsy and mental retardation limited to females: an under-recognized disorder. Brain, 2008, 131(4): 918-927.
|
| 10. |
Borghi R, Magliocca V, Trivisano M, et al. Modeling PCDH19-CE: from 2D stem cell model to 3D brain organoids. Molecular Sciences, 2022, 23: 3506.
|
| 11. |
Lotte J, Bast T, Borusiak P, et al. Effectiveness of antiepileptic therapy in patients with PCDH19 mutations. Seizure, 2016, 35: 106-10.
|
| 12. |
Sadleir LG, Kolc KL, King C, et al. Levetiracetam efficacy in PCDH19 girls clustering epilepsy. Paediatr Neurol, 2020, 24: 142-147.
|
| 13. |
Trivisano M, Specchio N, Vigevano F. Extending the use of stiripentol to other epileptic syndromes: a case of PCDH19-related epilepsy. Paediatr Neurol, 2015, 19: 248-250.
|
| 14. |
Dell’Isola GB, Vinti V, Fattorusso A, et al. The broad clinical spectrum of epilepsies associated with protocadherin 19 gene mutation. Front Neurol, 2022, 12: 780053.
|
