Cardiac Phenotype In ATP1A3 Related-Syndromes: A Multicentre Study

被引：0

作者：

Balestrini, S. ^{[1
,2
]}

Mikati, M. ^{[3
]}

Garcia-Roves, R. Alvarez ^{[4
,5
]}

Carboni, M. ^{[6
]}

Hunanyan, A. ^{[3
]}

Kherallah, B. ^{[3
]}

McLean, M. ^{[3
]}

Prange, L. ^{[3
]}

De Grandis, E. ^{[7
]}

Gagliardi, A. ^{[7
,8
]}

Pisciotta, L. ^{[7
]}

Stagnaro, M. ^{[7
]}

Veneselli, E. ^{[7
]}

Campistol, J. ^{[9
,10
]}

Fons, C. ^{[9
,10
]}

Brashear, A. ^{[11
]}

Miller, C. ^{[11
]}

Samoes, R. ^{[12
]}

Brankovic, V. ^{[13
]}

Padiath, Q. ^{[14
]}

Potic, A. ^{[13
]}

Pilch, J. ^{[15
]}

Vezyroglou, K. ^{[16
,17
]}

Hollingsworth, G. ^{[18
]}

Scheffer, I. ^{[18
]}

Granata, T. ^{[8
]}

Nardocci, N. ^{[8
]}

Ragona, F. ^{[8
]}

Arzimanoglou, A. ^{[19
]}

Panagiotakaki, E. ^{[19
]}

Carrilho, I. ^{[20
]}

Zucca, C. ^{[21
]}

Novy, J. ^{[22
,23
]}

Dziezyc, K. ^{[24
]}

Parowicz, M. ^{[25
,26
]}

Mazurkiewicz-Beldzinska, M. ^{[27
]}

Weckhuysen, S. ^{[28
]}

Pons, R. ^{[29
]}

Groppa, S. ^{[30
]}

Sinden, D. S. ^{[31
]}

Pitt, G. ^{[31
]}

Tinker, A. ^{[32
]}

Ashworth, M. ^{[33
]}

Michalak, Z. ^{[34
]}

Thom, M. ^{[34
]}

Cross, J. H. ^{[16
,17
]}

Vavassori, R. ^{[35
]}

Kaski, J. P. ^{[4
,5
]}

Sisodiya, S. M. ^{[1
,2
]}

机构：

[1] UCL Queen Sq Inst Neurol, Dept Clin & Expt Epilepsy, London, England

[2] Chalfont Ctr Epilepsy, London, England

[3] Duke Univ, Sch Med, Dept Neurobiol, Div Pediat Neurol, Durham, NC 27706 USA

[4] UCL, Great Ormond St Hosp Children NHS Fdn Trust, Ctr Inherited Cardiovasc Dis, London, England

[5] UCL, Inst Cardiovasc Sci, London, England

[6] Duke Univ, Sch Med, Dept Pediat, Div Cardiol, Durham, NC 27706 USA

[7] Univ Genoa, Dept Neurosci Rehabil Ophthalmol Genet & Maternal, Child Neuropsychiat Unit, Ist Giannina Gaslini, Genoa, Italy

[8] IRCCS Fdn Neurol Inst C Besta, Dept Pediat Neurosci, Milan, Italy

[9] Hosp St Joan de Deu, Paediat Neurol Dept, Esplugas de Llobregat, Spain

[10] Barcelona Univ, Barcelona, Spain

[11] Wake Forest Sch Med, Dept Neurol, Winston Salem, NC 27101 USA

[12] Hosp Santo Antonio, Ctr Hosp Porto, Dept Neurol, Porto, Portugal

[13] Univ Belgrade, Clin Child Neurol & Psychiat, Dept Neurol, Fac Med, Belgrade, Serbia

[14] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Human Genet, Pittsburgh, PA 15261 USA

[15] Med Univ Silesia, Dept Pediat Neurol, Katowice, Poland

[16] UCL Inst Child Hlth, Clin Neurosci, Dev Neurosci Programme, London, England

[17] Great Ormond St Hosp Children NHS Fdn Trust, London, England

[18] Univ Melbourne, Dept Med, Epilepsy Res Ctr, Austin Hlth, Melbourne, Vic, Australia

[19] Univ Hosp Lyon HCL, Dept Clin Epileptol Sleep Disorders & Funct Neuro, Lyon, France

[20] Ctr Hosp & Univ Porto, Paediat Neurol Unit, CMIN, Porto, Portugal

[21] IRCCS E Medea, Clin Neurophysiol Unit, Lecce, Italy

[22] CHU Vaudois, Dept Neurol, Lausanne, Switzerland

[23] Univ Lausanne, Lausanne, Switzerland

[24] Inst Psychiat & Neurol, Dept Neurol 2, Warsaw, Poland

[25] Assoc AHC18 eV, Bischofsheim, Germany

[26] Polish Assoc People Affected AHC Ahc Pl, Warsaw, Poland

[27] Med Univ Gdansk, Dept Dev Neurol, Chair Neurol, Gdansk, Poland

[28] Univ Hosp Antwerp, Dept Neurol, Antwerp, Belgium

[29] Univ Athens, Agia Sofia Children Hosp, Dept Pediat 1, Athens, Greece

[30] Johannes Gutenberg Univ Mainz, Univ Med Ctr, Dept Neurol, Mainz, Germany

[31] Duke Univ, Ion Channel Res Unit, Dept Med Cardiol & Pharmacol, Med Ctr, Durham, NC 27706 USA

[32] Queen Mary Univ London, Ctr Heart, London, England

[33] Great Ormond St Hosp Children NHS Fdn Trust, Dept Pathol, London, England

[34] UCL, Inst Neurol, Dept Neuropathol, London, England

[35] Euro Mediterranean Inst Sci & Technol IEMEST, Palermo, Italy

来源：

EPILEPSIA | 2019年 / 60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：

P367

引用

页码：173 / 173

页数：1

共 50 条

[31] Mutations in ATP1A3 cause alternating hemiplegia of childhood
Aminkeng, F.
CLINICAL GENETICS, 2013, 83 (01) : 32 - 33
[32] Clinical spectrum of disease associated with ATP1A3 mutations
Ozelius, Laurie J.
LANCET NEUROLOGY, 2012, 11 (09): : 741 - 743
[33] De novo ATP1A3 variants cause polymicrogyria
Miyatake, Satoko
Kato, Mitsuhiro
Kumamoto, Takuma
Hirose, Tomonori
Koshimizu, Eriko
Matsui, Takaaki
Takeuchi, Hideyuki
Doi, Hiroshi
Hamada, Keisuke
Nakashima, Mitsuko
Sasaki, Kazunori
Yamashita, Akio
Takata, Atsushi
Hamanaka, Kohei
Satoh, Mai
Miyama, Takabumi
Sonoda, Yuri
Sasazuki, Momoko
Torisu, Hiroyuki
Hara, Toshiro
Sakai, Yasunari
Noguchi, Yushi
Miura, Mazumi
Nishimura, Yoko
Nakamura, Kazuyuki
Asai, Hideyuki
Hinokuma, Nodoka
Miya, Fuyuki
Tsunoda, Tatsuhiko
Togawa, Masami
Ikeda, Yukihiro
Kimura, Nobusuke
Amemiya, Kaoru
Horino, Asako
Fukuoka, Masataka
Ikeda, Hiroko
Merhav, Goni
Ekhilevitch, Nina
Miura, Masaki
Mizuguchi, Takeshi
Miyake, Noriko
Suzuki, Atsushi
Ohga, Shouichi
Saitsu, Hirotomo
Takahashi, Hidehisa
Tanaka, Fumiaki
Ogata, Kazuhiro
Ohtaka-Maruyama, Chiaki
Matsumoto, Naomichi
SCIENCE ADVANCES, 2021, 7 (13)
[34] COMPARATIVE IN SILICO ANALYSIS OF ATP1A3 GENE IN MAMMALS
Mishra, Chinmoy
Sahoo, Siddhant Sekhar
Mishra, Sidharth Prasad
Mohanty, Stuti Tanaya
Nayak, Gangadhar
Behera, Kumaresh
Sethy, Kamdev
EXPLORATORY ANIMAL AND MEDICAL RESEARCH, 2018, 8 (01) : 11 - 19
[35] Mutations in ATP1A3 are linked to alternating hemiplegia of childhood
Nature Reviews Neurology, 2012, 8 (10) : 534 - 534
[36] A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Demos, Michelle K.
van Karnebeek, Clara D. M.
Ross, Colin J. D.
Adam, Shelin
Shen, Yaoqing
Zhan, Shing Hei
Shyr, Casper
Horvath, Gabriella
Suri, Mohnish
Fryer, Alan
Jones, Steven J. M.
Friedman, Jan M.
ORPHANET JOURNAL OF RARE DISEASES, 2014, 9
[37] Effects of ATP1A3 Mutations on Brain Functional Network Connectivity
Whitlow, Christopher
Kawas, Mohammad
Cook, Jared
Kim, Jeongchul
Sai, Kiran
Snively, Beverly
Haq, Ihtsham
Sweadner, Kathleen
Ozelius, Laurie
Brashear, Allison
NEUROLOGY, 2020, 94 (15)
[38] Effects of ATP1A3 Mutations on Default Mode Network Connectivity
Whitlow, Christopher
Kim, Donghoon
Kim, Jeongchul
Jung, Youngkyoo
Cook, Jared
Snively, Beverly
Haq, Ihtsham
Sweadner, Kathleen
Ozelius, Laurie
Brashear, Allison
NEUROLOGY, 2019, 92 (15)
[39] ATP1A3 Mutation in Adult Rapid-Onset Ataxia
Sweadner, Kathleen J.
Toro, Camilo
Whitlow, Christopher T.
Snively, Beverly M.
Cook, Jared F.
Ozelius, Laurie J.
Markello, Thomas C.
Brashear, Allison
PLOS ONE, 2016, 11 (03):
[40] A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
Michelle K Demos
Clara DM van Karnebeek
Colin JD Ross
Shelin Adam
Yaoqing Shen
Shing Hei Zhan
Casper Shyr
Gabriella Horvath
Mohnish Suri
Alan Fryer
Steven JM Jones
Jan M Friedman
Orphanet Journal of Rare Diseases, 9

← 1 2 3 4 5 →