Status Epilepticus in Coenzyme A Synthase Protein-Associated Neurodegeneration - Expanding the Clinical Phenotype

被引:4
作者
Ajit, Valaparambil Karthika [1 ]
Selvaraj, Prabhu [1 ]
Divya, K. P. [1 ]
Thomas, Bejoy [2 ]
Menon, Ramshekhar N. N. [3 ]
Sundaram, Soumya [3 ]
机构
[1] Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Thiruvananthapuram, Kerala, India
[2] Sree Chitra Tirunal Inst Med Sci & Technol, Dept Imaging Sci & Intervent Radiol, Thiruvananthapuram, Kerala, India
[3] Sree Chitra Tirunal Inst Med Sci & Technol, Dept Neurol, Pediat Neurol & Neurodev Disorders, Thiruvananthapuram 695011, Kerala, India
关键词
DIAGNOSIS;
D O I
10.1007/s12098-023-04515-x
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:519 / 519
页数:1
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  • [1] Mutational analysis of COASY in an Italian patient with NBIA
    Annesi, Grazia
    Gagliardi, Monica
    Iannello, Grazia
    Quattrone, Aldo
    [J]. PARKINSONISM & RELATED DISORDERS, 2016, 28 : 150 - 151
  • [2] Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation
    Dusi, Sabrina
    Valetta, Lorella
    Haack, Tobias B.
    Tsuchiya, Yugo
    Venco, Paola
    Pasqualato, Sebastiano
    Goffrini, Paola
    Tigano, Marco
    Demchenko, Nikita
    Wieland, Thomas
    Schwarzmayr, Thomas
    Strom, Tim M.
    Invernizzi, Federica
    Garavaglia, Barbara
    Gregory, Allison
    Sanford, Lynn
    Hamada, Jeffrey
    Bettencourt, Conceicao
    Houlden, Henry
    Chiapparini, Luisa
    Zorzi, Giovanna
    Kurian, Manju A.
    Nardocci, Nardo
    Prokisch, Holger
    Hayflick, Susan
    Gout, Ivan
    Tiranti, Valeria
    [J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 94 (01) : 11 - 22
  • [3] Diagnosis of CoPAN by whole exome sequencing: Waking up a sleeping tiger's eye
    Evers, Christina
    Seitz, Angelika
    Assmann, Birgit
    Opladen, Thomas
    Karch, Stephanie
    Hinderhofer, Katrin
    Granzow, Martin
    Paramasivam, Nagarajan
    Eils, Roland
    Diessl, Nicolle
    Bartram, Claus R.
    Moog, Ute
    [J]. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2017, 173 (07) : 1878 - 1886
  • [4] Neurodegeneration with Brain Iron Accumulation: Diagnosis and Managementl
    Hogarth, Penelope
    [J]. JOURNAL OF MOVEMENT DISORDERS, 2015, 8 (01) : 1 - 13