A novel developmental encephalopathy with epilepsy and hyperkinetic movement disorders associated with a deletion of the sodium channel gene cluster on chromosome 2q24.3

被引：2

作者：

Mastrangelo, Mario ^{[1
]}

Mei, Davide ^{[2
]}

Cesario, Serena ^{[1
]}

Fioriello, Francesca ^{[1
]}

Bernardini, Laura ^{[3
]}

Brinciotti, Mario ^{[1
]}

Guerrini, Renzo ^{[2
]}

Leuzzi, Vincenzo ^{[1
]}

机构：

[1] Sapienza Univ Rome, Dept Neurosci, Div Child Neurol & Infantile Psychiat, Rome, Italy

[2] Childrens Hosp Anna Meyer, Neurosci & Neurogenet Excellence Ctr, Florence, Italy

[3] Sapienza Univ Rome, Cytogenet Unit, Mendel Inst IRCCS Casa Sollievo Sofferenza, Rome, Italy

来源：

PARKINSONISM & RELATED DISORDERS | 2019年 / 68卷

关键词：

Epileptic encephalopathies; Dravet syndrome; Hyperkinetic movement disorders; Developmental; Developmental delay;

D O I：

10.1016/j.parkreldis.2019.09.016

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页码：1 / 3

页数：3

共 5 条

[1] Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype-phenotype correlation and a comprehensive review of previously published cases
Davidsson, Josef
Collin, Anna
Olsson, Mia Engman
Lundgren, Johan
Soller, Maria
[J]. EPILEPSY RESEARCH, 2008, 81 (01) : 69 - 79
[2] Genome-wide association study of Parkinson's disease in East Asians
Foo, Jia Nee
Tan, Louis C.
Irwan, Ishak D.
Au, Wing-Lok
Low, Hui Qi
Prakash, Kumar-M.
Ahmad-Annuar, Azlina
Bei, Jinxin
Chan, Anne Y. Y.
Chen, Chiung Mei
Chen, Yi-Chun
Chung, Sun Ju
Deng, Hao
Lim, Shen-Yang
Mok, Vincent
Pang, Hao
Pei, Zhong
Peng, Rong
Shang, Hui-Fang
Song, Kyuyoung
Tan, Ai Huey
Wu, Yih-Ru
Aung, Tin
Cheng, Ching-Yu
Chew, Fook Tim
Chew, Soo-Hong
Chong, Siow-Ann
Ebstein, Richard P.
Lee, Jimmy
Saw, Seang-Mei
Seow, Adeline
Subramaniam, Mythily
Tai, E-Shyong
Vithana, Eranga N.
Wong, Tien-Yin
Heng, Khai Koon
Meah, Wee-Yang
Khor, Chiea Chuen
Liu, Hong
Zhang, Furen
Liu, Jianjun
Tan, Eng-King
[J]. HUMAN MOLECULAR GENETICS, 2017, 26 (01) : 226 - 232
[3] Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation
Ohashi, Tsukasa
Akasaka, Noriyuki
Kobayashi, Yu
Magara, Shinichi
Kawashima, Hideshi
Matsumoto, Naomichi
Saitsu, Hirotomo
Tohyama, Jun
[J]. EPILEPTIC DISORDERS, 2014, 16 (02) : 208 - 212
[4] Not all SCN1A epileptic encephalopathies are Dravet syndrome
Sadleir, Lynette G.
Mountier, Emily I.
Gill, Deepak
Davis, Suzanne
Joshi, Charuta
DeVile, Catherine
Kurian, Manju A.
Mandelstam, Simone
Wirrell, Elaine
Nickels, Katherine C.
Murali, Hema R.
Carvill, Gemma
Myers, Candace T.
Mefford, Heather C.
Scheffer, Ingrid E.
[J]. NEUROLOGY, 2017, 89 (10) : 1035 - 1042
[5] Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders
Wolff, Markus
Johannesen, Katrine M.
Hedrich, Ulrike B. S.
Masnada, Silvia
Rubboli, Guido
Gardella, Elena
Lesca, Gaetan
Ville, Dorothee
Milh, Mathieu
Villard, Laurent
Afenjar, Alexandra
Chantot-Bastaraud, Sandra
Mignot, Cyril
Lardennois, Caroline
Nava, Caroline
Schwarz, Niklas
Gerard, Marion
Perrin, Laurence
Doummar, Diane
Auvin, Stephane
Miranda, Maria J.
Hempel, Maja
Brilstra, Eva
Knoers, Nine
Verbeek, Nienke
van Kempen, Marjan
Braun, Kees P.
Mancini, Grazia
Biskup, Saskia
Hoertnagel, Konstanze
Doecker, Miriam
Bast, Thomas
Loddenkemper, Tobias
Wong-Kisiel, Lily
Baumeister, Friedrich M.
Fazeli, Walid
Striano, Pasquale
Dilena, Robertino
Fontana, Elena
Zara, Federico
Kurlemann, Gerhard
Klepper, Joerg
Thoene, Jess G.
Arndt, Daniel H.
Deconinck, Nicolas
Schmitt-Mechelke, Thomas
Maier, Oliver
Muhle, Hiltrud
Wical, Beverly
Finetti, Claudio
[J]. BRAIN, 2017, 140 : 1316 - 1336

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