<i>PRRT2</i>基因相關嬰兒驚厥伴發作性手足舞蹈徐動征一例并文獻回顧_Journal of Epilepsy

Authors：

婁曉霞 ¹ , 李文鳳 ¹ , 崔曉梅 ² , 祝新莉 ³ , 王炎強 ² ,  耿建紅 ²

1. ;
2. ;
3. ;

Corresponding?author：

耿建紅, Email: jianhonggeng@163.com

Keywords：

PRRT2基因; 嬰兒驚厥伴發作性手足舞蹈徐動征; 基因突變; 發作性運動誘發性運動障礙; 良性家族性嬰兒癲癇

DOI：

10.7507/2096-0247.202412007

Video：

Export PDF Favorites Scan Get Citation

Abstract Full text Figures/Tables Video References Cited by

Citation： 婁曉霞, 李文鳳, 崔曉梅, 祝新莉, 王炎強, 耿建紅. PRRT2基因相關嬰兒驚厥伴發作性手足舞蹈徐動征一例并文獻回顧. Journal of Epilepsy, 2025, 11(2): 178-184. doi: 10.7507/2096-0247.202412007 Copy

1.	Becker F, Schubert J, Striano P, et al. PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol, 2013, 260(5): 1234-1244.
2.	Liu M, Sun X, Lin L, et al. Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases. Front Pediatr, 2022, 10: 997088.
3.	Fearn N, Macdonald-Laurs E, Moylan L, et al. Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy. Epileptic Disord, 2023, 25(4): 510-518.
4.	Yang X, Zhang Y, Xu X, et al. Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. BMC Neurol, 2013, 13: 209.
5.	Vlaskamp DRM, Callenbach PMC, Rump P, et al. PRRT2-related phenotypes in patients with a 16p11. 2 deletion. Eur J Med Genet, 2019, 62(4): 265-269.
6.	王詩雨, 唐蒙蒙, 劉輝, 等. PRRT2基因突變相關疾病譜的臨床特征及遺傳學分析. 中國實用神經疾病雜志, 2025, 28(1): 1-6.
7.	阮毅燕, 陳瑜毅, 王金秋, 等. PRRT2基因突變相關癲癇患兒臨床及基因突變特點分析. 中國臨床新醫學, 2024, 17(8): 907-912.
8.	李寶廣, 楊花芳, 鄭華城, 等. 16例PRRT2基因突變家系研究. 中國優生與遺傳雜志, 2019, 27(2): 152-156.
9.	楊小玲, 張月華, 許小菁, 等. 嬰兒驚厥伴陣發性舞蹈手足徐動癥臨床特點和PRRT2基因突變研究. 中華醫學遺傳學雜志, 2014, 31(6): 679-685.
10.	Geng JH, Zheng Y, Li QF, et al. Case report: a case of concomitant paroxysmal kinesigenic dyskinesia and epilepsy: can we treat two birds with one stone? Front Neurol, 2022, 13: 826897.
11.	Yang L, You C, Qiu S, et al. Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy. Brain Behav, 2020, 10(5): e01597.
12.	Landolfi A, Barone P, Erro R. The spectrum of PRRT2-associated disorders: update on clinical features and pathophysiology. Front Neurol, 2021, 12: 629747.
13.	Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet, 2012, 90(1): 152-160.
14.	王彥, 李靜, 任重陽, 等. 18例發作性運動誘發性運動障礙患者的臨床特征和基因研究. 中國臨床神經科學, 2018, 26(5): 543-546.
15.	He J, Tang H, Liu C, et al. Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families. Exp Ther Med, 2021, 21(5): 504.
16.	Valente P, Castroflorio E, Rossi P, et al. PRRT2 is a key component of the Ca(2+)-dependent neurotransmitter release machinery. Cell Rep, 2016, 15(1): 117-131.
17.	Tan GH, Liu YY, Wang L, et al. PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. Cell Res, 2018, 28(1): 90-110.
18.	Yang K, Quiroz V, Ebrahimi-Fakhari D. PRRT2-related disorder. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews?. Seattle (WA): University of Washington, Seattle, January 11, 2018.
19.	Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet, 2013, 50(3): 133-139.
20.	Lee HY, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep, 2012, 1(1): 2-12.
21.	Li M, Niu F, Zhu X, et al. PRRT2 mutant leads to dysfunction of glutamate signaling. Int J Mol Sci, 2015, 16(5): 9134-9151.
22.	Vazquez B. Monotherapy in epilepsy: role of the newer antiepileptic drugs. Arch Neurol, 2004, 61(9): 1361-1365.

1. Becker F, Schubert J, Striano P, et al. PRRT2-related disorders: further PKD and ICCA cases and review of the literature. J Neurol, 2013, 260(5): 1234-1244.
2. Liu M, Sun X, Lin L, et al. Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases. Front Pediatr, 2022, 10: 997088.
3. Fearn N, Macdonald-Laurs E, Moylan L, et al. Peri-ictal EEG in infants with PRRT2-related self-limited infantile epilepsy. Epileptic Disord, 2023, 25(4): 510-518.
4. Yang X, Zhang Y, Xu X, et al. Phenotypes and PRRT2 mutations in Chinese families with benign familial infantile epilepsy and infantile convulsions with paroxysmal choreoathetosis. BMC Neurol, 2013, 13: 209.
5. Vlaskamp DRM, Callenbach PMC, Rump P, et al. PRRT2-related phenotypes in patients with a 16p11. 2 deletion. Eur J Med Genet, 2019, 62(4): 265-269.
6. 王詩雨, 唐蒙蒙, 劉輝, 等. PRRT2基因突變相關疾病譜的臨床特征及遺傳學分析. 中國實用神經疾病雜志, 2025, 28(1): 1-6.
7. 阮毅燕, 陳瑜毅, 王金秋, 等. PRRT2基因突變相關癲癇患兒臨床及基因突變特點分析. 中國臨床新醫學, 2024, 17(8): 907-912.
8. 李寶廣, 楊花芳, 鄭華城, 等. 16例PRRT2基因突變家系研究. 中國優生與遺傳雜志, 2019, 27(2): 152-156.
9. 楊小玲, 張月華, 許小菁, 等. 嬰兒驚厥伴陣發性舞蹈手足徐動癥臨床特點和PRRT2基因突變研究. 中華醫學遺傳學雜志, 2014, 31(6): 679-685.
10. Geng JH, Zheng Y, Li QF, et al. Case report: a case of concomitant paroxysmal kinesigenic dyskinesia and epilepsy: can we treat two birds with one stone? Front Neurol, 2022, 13: 826897.
11. Yang L, You C, Qiu S, et al. Novel and de novo point and large microdeletion mutation in PRRT2-related epilepsy. Brain Behav, 2020, 10(5): e01597.
12. Landolfi A, Barone P, Erro R. The spectrum of PRRT2-associated disorders: update on clinical features and pathophysiology. Front Neurol, 2021, 12: 629747.
13. Heron SE, Grinton BE, Kivity S, et al. PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Am J Hum Genet, 2012, 90(1): 152-160.
14. 王彥, 李靜, 任重陽, 等. 18例發作性運動誘發性運動障礙患者的臨床特征和基因研究. 中國臨床神經科學, 2018, 26(5): 543-546.
15. He J, Tang H, Liu C, et al. Novel PRRT2 gene variants identified in paroxysmal kinesigenic dyskinesia and benign familial infantile epilepsy in Chinese families. Exp Ther Med, 2021, 21(5): 504.
16. Valente P, Castroflorio E, Rossi P, et al. PRRT2 is a key component of the Ca(2+)-dependent neurotransmitter release machinery. Cell Rep, 2016, 15(1): 117-131.
17. Tan GH, Liu YY, Wang L, et al. PRRT2 deficiency induces paroxysmal kinesigenic dyskinesia by regulating synaptic transmission in cerebellum. Cell Res, 2018, 28(1): 90-110.
18. Yang K, Quiroz V, Ebrahimi-Fakhari D. PRRT2-related disorder. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, eds. GeneReviews?. Seattle (WA): University of Washington, Seattle, January 11, 2018.
19. Heron SE, Dibbens LM. Role of PRRT2 in common paroxysmal neurological disorders: a gene with remarkable pleiotropy. J Med Genet, 2013, 50(3): 133-139.
20. Lee HY, Huang Y, Bruneau N, et al. Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions. Cell Rep, 2012, 1(1): 2-12.
21. Li M, Niu F, Zhu X, et al. PRRT2 mutant leads to dysfunction of glutamate signaling. Int J Mol Sci, 2015, 16(5): 9134-9151.
22. Vazquez B. Monotherapy in epilepsy: role of the newer antiepileptic drugs. Arch Neurol, 2004, 61(9): 1361-1365.

Previous Article
Study on patients' comfort level and influencing factors by video electroencephalogram
Next Article
分級診療體系下迷走神經刺激術治療癲癇的標準化流程推廣應用

Journal of Epilepsy

PRRT2基因相關嬰兒驚厥伴發作性手足舞蹈徐動征一例并文獻回顧

Abstract Full text Figures/Tables Video References Cited by

Previous Article

Next Article

Format

Content