母源<i>KCNQ3</i>基因突變致自限性家族性新生兒癲癇一例_Journal of Epilepsy

Authors：

 黃小麗 , 董尚勝 , 潘光毅

江門市婦幼保健院兒童康復中心（江門 529000）;

Corresponding?author：

黃小麗, Email: cuizhu03@126.com

Keywords：

KCNQ3基因; 自限性家族性新生兒癲癇; 良性家族性新生兒驚厥; 自限性家族性嬰兒癲癇

DOI：

10.7507/2096-0247.202404003

Video：

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Citation： 黃小麗, 董尚勝, 潘光毅. 母源KCNQ3基因突變致自限性家族性新生兒癲癇一例. Journal of Epilepsy, 2024, 10(4): 364-367. doi: 10.7507/2096-0247.202404003 Copy

1.	曾峰, 宋菲菲, 柯歡, 等. 一個良性家族性新生兒驚厥家系的臨床及基因變異分析. 中華醫學遺傳學雜志, 2022, 39(2): 4.
2.	Ettore Piro, Rosaria Nardello, Elena Gennaro, et al. A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome. Epileptic Disorders, 2019, 21(1): 87-91.
3.	Hou B, Varghese N, Soh H, et al. Loss of KCNQ2 or KCNQ3 leads to multifocal time-varying activity in the neonatal forebrain. eNeuro, 2021, 8(3): 20.
4.	陳冬嬋, 潘黎明, 林梅芳. 良性家族性新生兒驚厥患兒的KCNQ3基因變異分析. 中國優生與遺傳雜志, 2022, 5: 30.
5.	Portale A, Comella M, Salomone G, et al. The spectrum of KCNQ2- and KCNQ3-related epilepsy. Journal of Pediatric Neurology, 2023, 14(4): 77-79.
6.	Maljevic S, Vejzovic S, Bernhard MK, et al. Novel KCNQ3 mutation in a large family with benign familial neonatal epilepsy: a rare cause of neonatal seizure. Molecular syndromology, 2016, 10(7): 59-61.
7.	Trivisano M, Terracciano A, Milano T, et al. Benign familial infantile epilepsy. American Journal of Human Genetics, 2012, 90(1): 152-160.
8.	Miceli F, Strian P, Soldovieri MV, et al. A novelKCNQ3mutation in familial epilepsy with focal seizures and intellectual disability. Epilepsia, 2014, 56(2): 15-19.
9.	Sands TT, Miceli F, Lesca G, et al. Autism and developmental disability caused by KCNQ3 gain﹐f‐function variants. Annals of Neurology, 2019, 86(2): .85-90.
10.	Herlenius E, Heron SE, Grinton BE, et al. SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia, 2010, 48(6): 1138-1142.
11.	趙賓洋, 李聽松. 電壓門控離子通道相關癲癇研究進展及奧卡西平的治療選擇. 兒科藥學雜志, 2023, 29(9): 47-51.
12.	Blume HK , Garrison MM , Christakis DA . Neonatal seizures: treatment and treatment variability in 31 united states pediatric hospitals. Journal of Child Neurology, 2009, 24(2): 148-154.
13.	奚敏, 劉玲, 崔珊, 等. KCNQ2基因突變致新生兒驚厥5例臨床分析. 檢驗醫學與臨床, 2023, 20(5): 719-720.
14.	甘靖, 張金秀, 陳俊. KCNQ鉀通道功能障礙相關遺傳性癲癇的研究進展. 重慶醫學, 2023, 52(6): 6.
15.	Lange W, Geissendorfer J, Schenzer A, et al. Refinement of the binding site and mode of action of the anticonvulsant Retigabine on KCNQ K⁺ channels. Molecular Pharmacology, 2009, 75(2): 272.
16.	Vigil FA, Bozdemir E, Bugay V, et al. Prevention of brain damage after traumatic brain injury by pharmacological enhancement of KCNQ (Kv7, "M-type") K⁺ currents in neurons. J Cereb Blood Flow Metab, 2020(6): 142-153.
17.	Wang HS, Pan Z, Shi W, et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science, 1998, 282(5395): 1890-1893.
18.	Miceli F, Carotenuto L, Barrese V, et al. A novel Kv7. 3 variant in the voltage-sensing s4 segment in a family with benign neonatal epilepsy: functional characterization and in vitro rescue by β-hydroxybutyrate. Frontiers in Physiology, 2020, 11(2): 1040.
19.	Pan Z. A common ankyrin-g-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon. Journal of Neuroscience, 2006, 26(10): 2599-2613.
20.	Nguyen HM, Miyazaki H, Hoshi N, et al. Modulation of voltage-gated K+ channels by the sodium channel β1 subunit. Proceedings of the National Academy of Sciences of the United States of America, 2012, 109(45): 100.
21.	Arya R, Glauser TA. Pharmacotherapy of focal epilepsy in children: a systematic review of approved agents. CNS Drugs, 2013, 27(4): 273-286.
22.	Rogawski, Michael A, Tofighy, et al. Current understanding of the mechanism of action of the antiepileptic drug lacosamide. Epilepsy Research, 2015, 110: 189-205.
23.	馬玉平, 鄧劼, 傅征然, 等. 鈉通道阻滯劑治療6月齡以內嬰兒局灶性癲癇的效果及其影響因素分析. 中華兒科雜志, 2023, 61(11): 983-988.
24.	Anita NB, Sstiurre W, Jiang H, et al. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology, 2008, 71(3): 121-125.
25.	Egilling M, Egilling M, Rasmussen HB, et al. Dysfunction of the heteromeric Kv7.3/Kv7.5 potassium channel is associated with autism spectrum disorders. Frontiers in Genetics, 2013, 4(1): 54.
26.	Miceli F, Soldovieri MV, Lugli L, et al. Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7. 2 subunits in a sporadic case of benign familial neonatal seizures. Neurobiology of Disease, 2009, 35(2): 501-510.
27.	Sands TTBM. Rapid and safe response to low-dose carbamazepine in neonatal epilepsy. Epilepsia, 2016, 57(12): 74-77.
28.	Pisano TALH. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia, 2015, 56(5): 146-152.
29.	Knight D, Mahida S, Kelly M, et al. Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy. Epilepsia, 2023, 14(3): 142-150.
30.	Tarinita L, Medhabati M, Meena N, et al. Retigabine - a new anticonvulsant drug. Indian Medical Journal, 2008, 102(2): 77-82.
31.	Ko A, Jung DE, Kim SH, et al. The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy. Frontiers in Neurology, 2018, 9(5): 530.

1. 曾峰, 宋菲菲, 柯歡, 等. 一個良性家族性新生兒驚厥家系的臨床及基因變異分析. 中華醫學遺傳學雜志, 2022, 39(2): 4.
2. Ettore Piro, Rosaria Nardello, Elena Gennaro, et al. A novel mutation in KCNQ3-related benign familial neonatal epilepsy: electroclinical features and neurodevelopmental outcome. Epileptic Disorders, 2019, 21(1): 87-91.
3. Hou B, Varghese N, Soh H, et al. Loss of KCNQ2 or KCNQ3 leads to multifocal time-varying activity in the neonatal forebrain. eNeuro, 2021, 8(3): 20.
4. 陳冬嬋, 潘黎明, 林梅芳. 良性家族性新生兒驚厥患兒的KCNQ3基因變異分析. 中國優生與遺傳雜志, 2022, 5: 30.
5. Portale A, Comella M, Salomone G, et al. The spectrum of KCNQ2- and KCNQ3-related epilepsy. Journal of Pediatric Neurology, 2023, 14(4): 77-79.
6. Maljevic S, Vejzovic S, Bernhard MK, et al. Novel KCNQ3 mutation in a large family with benign familial neonatal epilepsy: a rare cause of neonatal seizure. Molecular syndromology, 2016, 10(7): 59-61.
7. Trivisano M, Terracciano A, Milano T, et al. Benign familial infantile epilepsy. American Journal of Human Genetics, 2012, 90(1): 152-160.
8. Miceli F, Strian P, Soldovieri MV, et al. A novelKCNQ3mutation in familial epilepsy with focal seizures and intellectual disability. Epilepsia, 2014, 56(2): 15-19.
9. Sands TT, Miceli F, Lesca G, et al. Autism and developmental disability caused by KCNQ3 gain﹐f‐function variants. Annals of Neurology, 2019, 86(2): .85-90.
10. Herlenius E, Heron SE, Grinton BE, et al. SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Epilepsia, 2010, 48(6): 1138-1142.
11. 趙賓洋, 李聽松. 電壓門控離子通道相關癲癇研究進展及奧卡西平的治療選擇. 兒科藥學雜志, 2023, 29(9): 47-51.
12. Blume HK , Garrison MM , Christakis DA . Neonatal seizures: treatment and treatment variability in 31 united states pediatric hospitals. Journal of Child Neurology, 2009, 24(2): 148-154.
13. 奚敏, 劉玲, 崔珊, 等. KCNQ2基因突變致新生兒驚厥5例臨床分析. 檢驗醫學與臨床, 2023, 20(5): 719-720.
14. 甘靖, 張金秀, 陳俊. KCNQ鉀通道功能障礙相關遺傳性癲癇的研究進展. 重慶醫學, 2023, 52(6): 6.
15. Lange W, Geissendorfer J, Schenzer A, et al. Refinement of the binding site and mode of action of the anticonvulsant Retigabine on KCNQ K⁺ channels. Molecular Pharmacology, 2009, 75(2): 272.
16. Vigil FA, Bozdemir E, Bugay V, et al. Prevention of brain damage after traumatic brain injury by pharmacological enhancement of KCNQ (Kv7, "M-type") K⁺ currents in neurons. J Cereb Blood Flow Metab, 2020(6): 142-153.
17. Wang HS, Pan Z, Shi W, et al. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science, 1998, 282(5395): 1890-1893.
18. Miceli F, Carotenuto L, Barrese V, et al. A novel Kv7. 3 variant in the voltage-sensing s4 segment in a family with benign neonatal epilepsy: functional characterization and in vitro rescue by β-hydroxybutyrate. Frontiers in Physiology, 2020, 11(2): 1040.
19. Pan Z. A common ankyrin-g-based mechanism retains KCNQ and NaV channels at electrically active domains of the axon. Journal of Neuroscience, 2006, 26(10): 2599-2613.
20. Nguyen HM, Miyazaki H, Hoshi N, et al. Modulation of voltage-gated K+ channels by the sodium channel β1 subunit. Proceedings of the National Academy of Sciences of the United States of America, 2012, 109(45): 100.
21. Arya R, Glauser TA. Pharmacotherapy of focal epilepsy in children: a systematic review of approved agents. CNS Drugs, 2013, 27(4): 273-286.
22. Rogawski, Michael A, Tofighy, et al. Current understanding of the mechanism of action of the antiepileptic drug lacosamide. Epilepsy Research, 2015, 110: 189-205.
23. 馬玉平, 鄧劼, 傅征然, 等. 鈉通道阻滯劑治療6月齡以內嬰兒局灶性癲癇的效果及其影響因素分析. 中華兒科雜志, 2023, 61(11): 983-988.
24. Anita NB, Sstiurre W, Jiang H, et al. KCNQ2 and KCNQ3 mutations contribute to different idiopathic epilepsy syndromes. Neurology, 2008, 71(3): 121-125.
25. Egilling M, Egilling M, Rasmussen HB, et al. Dysfunction of the heteromeric Kv7.3/Kv7.5 potassium channel is associated with autism spectrum disorders. Frontiers in Genetics, 2013, 4(1): 54.
26. Miceli F, Soldovieri MV, Lugli L, et al. Neutralization of a unique, negatively-charged residue in the voltage sensor of K V 7. 2 subunits in a sporadic case of benign familial neonatal seizures. Neurobiology of Disease, 2009, 35(2): 501-510.
27. Sands TTBM. Rapid and safe response to low-dose carbamazepine in neonatal epilepsy. Epilepsia, 2016, 57(12): 74-77.
28. Pisano TALH. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia, 2015, 56(5): 146-152.
29. Knight D, Mahida S, Kelly M, et al. Ezogabine impacts seizures and development in patients with KCNQ2 developmental and epileptic encephalopathy. Epilepsia, 2023, 14(3): 142-150.
30. Tarinita L, Medhabati M, Meena N, et al. Retigabine - a new anticonvulsant drug. Indian Medical Journal, 2008, 102(2): 77-82.
31. Ko A, Jung DE, Kim SH, et al. The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy. Frontiers in Neurology, 2018, 9(5): 530.

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母源KCNQ3基因突變致自限性家族性新生兒癲癇一例

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