THE EMERGING PHENOTYPE OF SCN8A ENCEPHALOPATHY

被引：0

作者：

Larsen, J. ^{[1
,2
,3
]}

Carvill, G. L. ^{[4
]}

Gardella, E. ^{[1
]}

Kluger, G. ^{[5
]}

Schmiedel, G. ^{[6
]}

Barisic, N. ^{[7
]}

Depienne, C. ^{[8
,9
,10
]}

Brilstra, E. ^{[11
]}

Mang, Y. ^{[2
]}

Klint, J. E. ^{[12
]}

Kirkpatrick, M. ^{[13
]}

Goudie, D. ^{[14
]}

Goldman, R. ^{[13
]}

Jaehn, J. A. ^{[15
]}

Jepsen, B. ^{[1
]}

Gill, D. ^{[16
]}

Doecker, M. ^{[17
]}

Biskup, S. ^{[17
]}

McMahon, J. M. ^{[18
]}

Koeleman, B. ^{[11
]}

Braun, K. ^{[11
]}

de Kovel, C. C. F. ^{[19
]}

Marini, C. ^{[20
]}

Specchio, N. ^{[21
,22
]}

Djemie, T. ^{[23
,24
]}

Weckhuysen, S. ^{[23
,24
]}

Tommerup, N. ^{[2
]}

Troncoso, M. ^{[25
]}

Troncoso, L. ^{[25
]}

Bevot, A. ^{[26
]}

Wolff, M. ^{[26
]}

Hjalgrim, H. ^{[1
,3
]}

Guerrini, R. ^{[21
,22
]}

Scheffer, I. E. ^{[18
,27
,28
]}

Mefford, H. C. ^{[4
]}

Moller, R. S. ^{[1
,3
]}

机构：

[1] Danish Epilepsy Ctr, Dianalund, Denmark

[2] Univ Copenhagen, Panum Inst, ICMM, DK-2200 Copenhagen, Denmark

[3] Univ Southern Denmark, Fac Hlth Sci, Odense, Denmark

[4] Univ Washington, Div Med Genet, Dept Pediat, Seattle, WA 98195 USA

[5] Epilepsy Ctr Children & Adolescents, Clin Neuropediatr & Neurorehabil, Schon Klin Vogtareuth, Vogtareuth, Germany

[6] Clin Children & Adolescents, Esslingen, Germany

[7] Univ Hosp Ctr Zagreb, Dept Pediat, Zagreb, Croatia

[8] Univ Paris 06, Fac Med, Paris, France

[9] CNRS, INSERM, UMRS 975, UMR 725, Paris, France

[10] Univ Wurzburg, Inst Humangenet, D-97070 Wurzburg, Germany

[11] Med Ctr Utrecht, Dept Med Genet, Utrecht, Netherlands

[12] Roskilde Hosp, Dept Clin Med, Roskilde, Denmark

[13] Tayside Childrens Hosp, Dundee, Scotland

[14] Univ Dundee, Ninewells Hosp & Med Sch, Dundee DD1 9SY, Scotland

[15] Univ Kiel, Univ Med Ctr Schleswig Holstein, Kiel, Germany

[16] Childrens Hosp Westmead, Sydney, NSW, Australia

[17] CeGaT GmbH Ctr Genom & Transcript, Tubingen, Germany

[18] Univ Melbourne, Epilepsy Res Ctr, Melbourne, Vic, Australia

[19] UMC Utrecht, Med Genet Res, Utrecht, Netherlands

[20] Pediat Hosp Bambino Gesu, Child Neurol Unit, Rome, Italy

[21] Childrens Hosp A Meyer, Child Neurol Unit, Florence, Italy

[22] Univ Florence, Florence, Italy

[23] Univ Antwerp, Dept Mol Genet, Neurogenet Grp, Antwerp, Belgium

[24] Univ Antwerp, Lab Neurogenet, Antwerp, Belgium

[25] Univ Chile, Child Neurol Serv Hosp San Borja Arriaran, Santiago, Chile

[26] Univ Childrens Hosp, Dept Pediat Neurol, Tubingen, Germany

[27] Florey Inst Melbourne, Melbourne, Vic, Australia

[28] Univ Melbourne, Dept Paediat, Melbourne, Vic, Australia

来源：

EPILEPSIA | 2014年 / 55卷

关键词：

D O I：

暂无

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

067

引用

页码：27 / 27

页数：1

共 50 条

[41] Generalized Tonic Seizures With Autonomic Signs Are The Hallmark Of SCN8A Developmental And Epileptic Encephalopathy
Trivisano, M.
Pavia, G. Carfi
Ferretti, A.
Fusco, L.
Vigevano, F.
Specchio, N.
EPILEPSIA, 2019, 60 : 8 - 8
[42] DISTINCTIVE INTERICTAL AND ICTAL VIDEO-EEG FEATURES OF EPILEPSY IN SCN8A ENCEPHALOPATHY
Gardella, E.
Larsen, J.
Wolff, M.
Schmiedel, G.
Kirkpatrick, M.
Barisic, N.
Depienne, C.
Troncoso, M.
Jepsen, B.
Nikanorova, M.
Troncoso, L.
Bevot, A.
Hjalgrim, H.
Beniczky, S.
Moller, R. S.
EPILEPSIA, 2014, 55 : 201 - 202
[43] SCN8A modified Delphi commentary
Abbott, Megan J.
Knupp, Kelly G.
EPILEPSIA, 2024, 65 (08) : 2339 - 2340
[44] A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report
Lin, Kao-Min
Su, Geng
Wang, Fengpeng
Zhang, Xiaobin
Wang, Yuanqing
Ren, Jun
Wang, Xin
Yao, Yi
Zhou, Ying
BMC PEDIATRICS, 2019, 19 (01)
[45] Relationship Between Genetic Variants and Disease Characteristics in Patients with SCN8A Developmental and Epileptic Encephalopathy (SCN8A-DEE) or SCN8A-Related Epilepsy
Haubenberger, Dietrich
Grayson, Celene
Cutts, Alison
Luzon, Constanza
Butterfield, Noam
Savoie, Hillary
Hammer, Michael F.
Schreiber, John
Pimstone, Simon N.
Aycardi, Ernesto
Harden, Cynthia
Jen, Eric
Nguyen, Trung
NEUROLOGY, 2021, 96 (15)
[46] Osteoporosis associated with SCN8A mutation
Khurram, Daniyeh
Kraftson, Andrew
Clines, Gregory A.
JOURNAL OF BONE AND MINERAL RESEARCH, 2024, 39 : 316 - 316
[47] SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizures
Wang, Jiaping
Gao, Hua
Bao, Xinhua
Zhang, Qingping
Li, Jiarui
Wei, Liping
Wu, Xiru
Chen, Yan
Yu, Shujie
BMC MEDICAL GENETICS, 2017, 18
[48] Long-Term Downregulation of the Sodium Channel Gene Scn8a Is Therapeutic in Mouse Models of SCN8A Epilepsy
Hill, Sophie F.
Yu, Wenxi
Ziobro, Julie
Chalasani, Sanjna
Reger, Faith
Meisler, Miriam H.
ANNALS OF NEUROLOGY, 2024, 95 (04) : 754 - 759
[49] SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment
McNally, Melanie A.
Johnson, Julia
Huisman, Thierry A.
Poretti, Andrea
Baranano, Kristin W.
Baschat, Ahmet A.
Stafstrom, Carl E.
PEDIATRIC NEUROLOGY, 2016, 64 : 87 - 91
[50] Adrenergic Mechanisms of Audiogenic Seizure-Induced Death in a Mouse Model of SCN8A Encephalopathy
Wengert, Eric R.
Wenker, Ian C.
Wagner, Elizabeth L.
Wagley, Pravin K.
Gaykema, Ronald P.
Shin, Jung-Bum
Patel, Manoj K.
FRONTIERS IN NEUROSCIENCE, 2021, 15

← 1 2 3 4 5 →