DNM1 encephalopathy - atypical phenotype with hypomyelination due to a novel de novo variant in the DNM1 gene

被引：17

作者：

Kolnikova, Miriam ^{[1
,2
]}

Skopkova, Martina ^{[3
]}

Ilencikova, Denisa ^{[2
,4
]}

Foltan, Tomas ^{[1
,2
]}

Payerova, Jaroslava ^{[1
,2
]}

Danis, Daniel ^{[3
]}

Klimes, Iwar ^{[3
]}

Stanik, Juraj ^{[2
,3
,4
]}

Gasperikova, Daniela ^{[3
]}

机构：

[1] Comenius Univ, Dept Pediat Neurol, Fac Med, Bratislava, Slovakia

[2] Children Fac Hosp, Bratislava, Slovakia

[3] Slovak Acad Sci, Inst Expt Endocrinol, Biomed Res Ctr, Lab Diabet & Metab Disorders, Dubravska Cesta 9, Bratislava 84505, Slovakia

[4] Comenius Univ, Dept Pediat, Fac Med, Bratislava, Slovakia

来源：

SEIZURE-EUROPEAN JOURNAL OF EPILEPSY | 2018年 / 56卷

关键词：

Dynamin; 1; DNM1; gene; Epileptic encephalopathy; Hypomyelination;

D O I：

10.1016/j.seizure.2018.01.020

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

[No abstract available]

引用

页码：31 / 33

页数：3

共 4 条

[1] De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
Appenzeller, Silke
Balling, Rudi
Barisic, Nina
Baulac, Stephanie
Caglayan, Hande
Craiu, Dana
De Jonghe, Peter
Depienne, Christel
Dimova, Petia
Djemie, Tania
Gormley, Padhraig
Guerrini, Renzo
Helbig, Ingo
Hjalgrim, Helle
Hoffman-Zacharska, Dorota
Jaehn, Johanna
Klein, Karl Martin
Koeleman, Bobby
Komarek, Vladimir
Krause, Roland
Kuhlenbaeumer, Gregor
Leguern, Eric
Lehesjoki, Anna-Elina
Lemke, Johannes R.
Lerche, Holger
Linnankivi, Tarja
Marini, Carla
May, Patrick
Moller, Rikke S.
Muhle, Hiltrud
Pal, Deb
Palotie, Aarno
Pendziwiat, Manuela
Robbiano, Angela
Roelens, Filip
Rosenow, Felix
Selmer, Kaja
Serratosa, Jose M.
Sisodiya, Sanjay
Stephani, Ulrich
Sterbova, Katalin
Striano, Pasquale
Suls, Arvid
Talvik, Tiina
von Spiczak, Sarah
Weber, Yvonne
Weckhuysen, Sarah
Zara, Federico
Abou-Khalil, Bassel
Alldredge, Brian K.
[J]. AMERICAN JOURNAL OF HUMAN GENETICS, 2014, 95 (04) : 360 - 370
[2] Dynamin, a membrane-remodelling GTPase
Ferguson, Shawn M.
De Camilli, Pietro
[J]. NATURE REVIEWS MOLECULAR CELL BIOLOGY, 2012, 13 (02) : 75 - 88
[3] Analysis of protein-coding genetic variation in 60,706 humans
Lek, Monkol
Karczewski, Konrad J.
Minikel, Eric V.
Samocha, Kaitlin E.
Banks, Eric
Fennell, Timothy
O'Donnell-Luria, Anne H.
Ware, James S.
Hill, Andrew J.
Cummings, Beryl B.
Tukiainen, Taru
Birnbaum, Daniel P.
Kosmicki, Jack A.
Duncan, Laramie E.
Estrada, Karol
Zhao, Fengmei
Zou, James
Pierce-Hollman, Emma
Berghout, Joanne
Cooper, David N.
Deflaux, Nicole
DePristo, Mark
Do, Ron
Flannick, Jason
Fromer, Menachem
Gauthier, Laura
Goldstein, Jackie
Gupta, Namrata
Howrigan, Daniel
Kiezun, Adam
Kurki, Mitja I.
Moonshine, Ami Levy
Natarajan, Pradeep
Orozeo, Lorena
Peloso, Gina M.
Poplin, Ryan
Rivas, Manuel A.
Ruano-Rubio, Valentin
Rose, Samuel A.
Ruderfer, Douglas M.
Shakir, Khalid
Stenson, Peter D.
Stevens, Christine
Thomas, Brett P.
Tiao, Grace
Tusie-Luna, Maria T.
Weisburd, Ben
Won, Hong-Hee
Yu, Dongmei
Altshuler, David M.
[J]. NATURE, 2016, 536 (7616) : 285 - +
[4] DNM1 encephalopathy A new disease of vesicle fission
von Spiczak, Sarah
Helbig, Katherine L.
Shinde, Deepali N.
Huether, Robert
Pendziwiat, Manuela
Lourenco, Charles
Nunes, Mark E.
Sarco, Dean P.
Kaplan, Richard A.
Dlugos, Dennis J.
Kirsch, Heidi
Slavotinek, Anne
Cilio, Maria R.
Cervenka, Mackenzie C.
Cohen, Julie S.
McClellan, Rebecca
Fatemi, Ali
Yuen, Amy
Sagawa, Yoshimi
Littlejohn, Rebecca
McLean, Scott D.
Hernandez-Hernandez, Laura
Maher, Bridget
Moller, Rikke S.
Palmer, Elizabeth
Lawson, John A.
Campbell, Colleen A.
Joshi, Charuta N.
Kolbe, Diana L.
Hollingsworth, Georgie
Neubauer, Bernd A.
Muhle, Hiltrud
Stephani, Ulrich
Scheffer, Ingrid E.
Pena, Sergio D. J.
Sisodiya, Sanjay M.
Helbig, Ingo
[J]. NEUROLOGY, 2017, 89 (04) : 385 - 394

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