<i>PRRT2</i>基因相关婴儿惊厥伴发作性手足舞蹈徐动征一例并文献回顾_Journal of Epilepsy

Authors：

娄晓霞 ¹ , 李文凤 ¹ , 崔晓梅 ² , 祝新莉 ³ , 王炎强 ² ,  耿建红 ²

1. ;
2. ;
3. ;

Corresponding author：

耿建红, Email: jianhonggeng@163.com

Keywords：

PRRT2基因; 婴儿惊厥伴发作性手足舞蹈徐动征; 基因突变; 发作性运动诱发性运动障碍; 良性家族性婴儿癫痫

DOI：

10.7507/2096-0247.202412007

Video：

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Citation： 娄晓霞, 李文凤, 崔晓梅, 祝新莉, 王炎强, 耿建红. PRRT2基因相关婴儿惊厥伴发作性手足舞蹈徐动征一例并文献回顾. 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.	王诗雨, 唐蒙蒙, 刘辉, 等. PRRT2基因突变相关疾病谱的临床特征及遗传学分析. 中国实用神经疾病杂志, 2025, 28(1): 1-6.
7.	阮毅燕, 陈瑜毅, 王金秋, 等. PRRT2基因突变相关癫痫患儿临床及基因突变特点分析. 中国临床新医学, 2024, 17(8): 907-912.
8.	李宝广, 杨花芳, 郑华城, 等. 16例PRRT2基因突变家系研究. 中国优生与遗传杂志, 2019, 27(2): 152-156.
9.	杨小玲, 张月华, 许小菁, 等. 婴儿惊厥伴阵发性舞蹈手足徐动症临床特点和PRRT2基因突变研究. 中华医学遗传学杂志, 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.	王彦, 李静, 任重阳, 等. 18例发作性运动诱发性运动障碍患者的临床特征和基因研究. 中国临床神经科学, 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. 王诗雨, 唐蒙蒙, 刘辉, 等. PRRT2基因突变相关疾病谱的临床特征及遗传学分析. 中国实用神经疾病杂志, 2025, 28(1): 1-6.
7. 阮毅燕, 陈瑜毅, 王金秋, 等. PRRT2基因突变相关癫痫患儿临床及基因突变特点分析. 中国临床新医学, 2024, 17(8): 907-912.
8. 李宝广, 杨花芳, 郑华城, 等. 16例PRRT2基因突变家系研究. 中国优生与遗传杂志, 2019, 27(2): 152-156.
9. 杨小玲, 张月华, 许小菁, 等. 婴儿惊厥伴阵发性舞蹈手足徐动症临床特点和PRRT2基因突变研究. 中华医学遗传学杂志, 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. 王彦, 李静, 任重阳, 等. 18例发作性运动诱发性运动障碍患者的临床特征和基因研究. 中国临床神经科学, 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.

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PRRT2基因相关婴儿惊厥伴发作性手足舞蹈徐动征一例并文献回顾

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