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

[31] Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy
Wengert, Eric R.
Tronhjem, Cathrine E.
Wagnon, Jacy L.
Johannesen, Katrine M.
Petit, Hayley
Krey, Ilona
Saga, Anusha U.
Panchal, Payal S.
Strohm, Samantha M.
Lange, Joern
Kamphausen, Susanne B.
Rubboli, Guido
Lemke, Johannes R.
Gardella, Elena
Patel, Manoj K.
Meisler, Miriam H.
Moller, Rikke S.
EPILEPSIA, 2019, 60 (11) : 2277 - 2285
[32] Cardiac arrhythmia in a mouse model of sodium channel SCN8A epileptic encephalopathy
Frasier, Chad R.
Wagnon, Jacy L.
Bao, Yangyang Oliver
McVeigh, Luke G.
Lopez-Santiago, Luis F.
Meisler, Miriam H.
Isom, Lori L.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2016, 113 (45) : 12838 - 12843
[33] Early-onset epileptic encephalopathy with de novo SCN8A mutation
Xiao, Yangyang
Xiong, Jie
Mao, Ding'an
Liu, Lingjuan
Li, Jian
Li, Xingfang
Luo, Haiyan
Liu, Liqun
EPILEPSY RESEARCH, 2018, 139 : 9 - 13
[34] Neuraxial block anesthetic technique in a patient with SCN8A encephalopathy: case report
Machado, Eric Guimaraes
Bille, Isis da Rocha Costa
Araujo, Mariana Moraes Pereira das Neves
das Neves, Jose Francisco Nunes Pereira
Maues, Gilson Lorena
Marcos, Marco Felipe Bouzada
Araujo, Fernando de Paiva
BRAZILIAN JOURNAL OF ANESTHESIOLOGY, 2022, 72 (06): : 826 - 828
[35] Somatostatin-Positive Interneurons Contribute to Seizures in SCN8A Epileptic Encephalopathy
Wengert, Eric R.
Miralles, Raquel M.
Wedgwood, Kyle C. A.
Wagley, Pravin K.
Strohm, Samantha M.
Panchal, Payal S.
Idrissi, Abrar Majidi
Wenker, Ian C.
Thompson, Jeremy A.
Gaykema, Ronald P.
Patel, Manoj K.
JOURNAL OF NEUROSCIENCE, 2021, 41 (44): : 9257 - 9273
[36] Dentate gyrus granule cells are a locus of pathology in Scn8a developmental encephalopathy
Yu, Wenxi
Hill, Sophie F.
Zhu, Limei
Demetriou, Yiannos
Reger, Faith
Mattis, Joanna
Meisler, Miriam H.
NEUROBIOLOGY OF DISEASE, 2024, 199
[37] Early onset epileptic encephalopathy caused by de novo SCN8A mutations
Ohba, Chihiro
Kato, Mitsuhiro
Takahashi, Satoru
Lerman-Sagie, Tally
Lev, Dorit
Terashima, Hiroshi
Kubota, Masaya
Kawawaki, Hisashi
Matsufuji, Mayumi
Kojima, Yasuko
Tateno, Akihiko
Goldberg-Stern, Hadassa
Straussberg, Rachel
Marom, Dafna
Leshinsky-Silver, Esther
Nakashima, Mitsuko
Nishiyama, Kiyomi
Tsurusaki, Yoshinori
Miyake, Noriko
Tanaka, Fumiaki
Matsumoto, Naomichi
Saitsu, Hirotomo
EPILEPSIA, 2014, 55 (07) : 994 - 1000
[38] De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy
Berkovic, Samuel F.
Dixon-Salazar, Tracy
Goldstein, David B.
Heinzen, Erin L.
Laughlin, Brandon L.
Lowenstein, Daniel H.
Lubbers, Laura
Milder, Julie
Stewart, Randall
Whittemore, Vicky
Angione, Kaitlin
Bazil, Carl W.
Bier, Louise
Bluvstein, Judith
Brimble, Elise
Campbell, Colleen
Chambers, Chelsea
Choi, Hyunmi
Cilio, Maria Roberta
Ciliberto, Michael
Cornes, Susannah
Delanty, Norman
Demarest, Scott
Devinsky, Orrin
Dlugos, Dennis
Dubbs, Holly
Dugan, Patricia
Ernst, Michelle E.
Gallentine, William
Gibbons, Melissa
Goodkin, Howard
Grinton, Bronwyn
Helbig, Ingo
Jansen, Laura
Johnson, Kaleas
Joshi, Charuta
Lippa, Natalie C.
Makati, Mohamad A.
Marsh, Eric
Martinez, Alejandro
Millichap, John
Moskovich, Yuliya
Mulhern, Maureen S.
Numis, Adam
Park, Kristen
Poduri, Annapurna
Porter, Brenda
Sands, Tristan T.
Scheffer, Ingrid E.
Sheidley, Beth
GENETICS IN MEDICINE, 2018, 20 (02) : 275 - 281
[39] Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy
Trivisano, Marina
Pavia, Giusy Carfi
Ferretti, Alessandro
Fusco, Lucia
Vigevano, Federico
Specchio, Nicola
EPILEPSY & BEHAVIOR, 2019, 96 : 219 - 223
[40] A de novo SCN8A heterozygous mutation in a child with epileptic encephalopathy: a case report
Kao-Min Lin
Geng Su
Fengpeng Wang
Xiaobin Zhang
Yuanqing Wang
Jun Ren
Xin Wang
Yi Yao
Ying Zhou
BMC Pediatrics, 19

← 1 2 3 4 5 →