Reply: Autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy

被引：1

作者：

Stogmann, Elisabeth ^{[1
]}

Zimprich, Alexander ^{[1
]}

Zimprich, Fritz ^{[1
]}

机构：

[1] Med Univ Vienna, Dept Clin Neurol, A-1090 Vienna, Austria

来源：

BRAIN | 2013年 / 136卷

关键词：

D O I：

10.1093/brain/awt141

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：2

共 50 条

[21] Cortical myoclonus and epilepsy in a family with a newSLC20A2mutation
Coppola, Antonietta
Hernandez-Hernandez, Laura
Balestrini, Simona
Krithika, S.
Moran, Nicholas
Hale, Blake
Cordivari, Carla
Sisodiya, Sanjay M.
JOURNAL OF NEUROLOGY, 2020, 267 (08) : 2221 - 2227
[22] Application of a High-Throughput Linkage Analysis System, SNP HiTLink, to Autosomal Recessive Familial Myoclonus Epilepsy
Morita, Kiyomi
Takahashi, Yuji
Ishiura, Hiroyuki
Mitsui, Jun
Goto, Jun
Tsuji, Shoji
NEUROLOGY, 2011, 76 (09) : A377 - A378
[23] Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation
Antonietta Coppola
Laura Hernandez-Hernandez
Simona Balestrini
S. Krithika
Nicholas Moran
Blake Hale
Carla Cordivari
Sanjay M. Sisodiya
Journal of Neurology, 2020, 267 : 2221 - 2227
[24] Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2
Strauss, KA
Puffenberger, EG
Huentelman, MJ
Gottlieb, S
Dobrin, SE
Parod, JM
Stephan, DA
Morton, DH
NEW ENGLAND JOURNAL OF MEDICINE, 2006, 354 (13): : 1370 - 1377
[25] A POLG2 Homozygous Mutation in an Autosomal Recessive Epilepsy Family Without Ophthalmoplegia
Lee, Su Jeong
Kanwal, Sumaira
Yoo, Da Hye
Park, Hye Ri
Choi, Byung-Ok
Chung, Ki Wha
JOURNAL OF CLINICAL NEUROLOGY, 2019, 15 (03): : 418 - 420
[26] EEG-EMG and EMG-EMG frequency analysis in Dutch patients with 'familial cortical myoclonus or tremor with epilepsy'
van Rootselaar, AF
Maurits, NM
Koelman, JH
Leenders, KL
Brown, P
Tijssen, MA
MOVEMENT DISORDERS, 2004, 19 : S120 - S120
[27] FAMILIAL CORTICAL MYOCLONIC TREMOR AND EPILEPSY (FCMTE): REFINEMENT OF THE FCMTE2 LOCUS
Licchetta, L.
Bisulli, F.
Pippucci, T.
Cantalupo, G.
Alvisi, L.
Martinelli, P.
Naldi, I
Seri, M.
Tinuper, P.
EPILEPSIA, 2013, 54 : 201 - 201
[28] A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome
Bassuk, Alexander G.
Wallace, Robyn H.
Buhr, Aimee
Buller, Andrew R.
Afawi, Zaid
Shimojo, Masahito
Miyata, Shingo
Chen, Shan
Gonzalez-Alegre, Pedro
Griesbach, Hilary L.
Wu, Shu
Nashelsky, Marcus
Vladar, Eszter K.
Antic, Dragana
Ferguson, Polly J.
Cirak, Sebahattin
Voit, Thomas
Scott, Matthew P.
Axelrod, Jeffrey D.
Gurnett, Christina
Daoud, Azhar S.
Kivity, Sara
Neufeld, Miriam Y.
Mazarib, Aziz
Straussberg, Rachel
Walid, Simri
Korczyn, Amos D.
Slusarski, Diane C.
Berkovic, Samuel F.
El-Shanti, Hatem I.
AMERICAN JOURNAL OF HUMAN GENETICS, 2008, 83 (05) : 572 - 581
[29] Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene
Mahadevan, Radha
Bhoyar, Rahul C.
Viswanathan, Natarajan
Rajagopal, Raskin Erusan
Essaki, Bobby
Suroliya, Varun
Chelladurai, Rachel
Sankaralingam, Saravanan
Shanmugam, Ganesan
Vayanakkan, Sriramakrishnan
Shamim, Uzma
Mathur, Aradhana
Jain, Abhinav
Imran, Mohamed
Faruq, Mohammed
Scaria, Vinod
Sivasubbu, Sridhar
Kalyanaraman, Shantaraman
BRAIN COMMUNICATIONS, 2021, 3 (01)
[30] Identification of a novel mutation in PLA2G6 gene in a Chinese pedigree with familial cortical myoclonic tremor with epilepsy
Gao, Lehong
Li, Liping
Ye, Jing
Zhu, Xilin
Shen, Ning
Zhang, Xiating
Wang, Dequan
Gao, Yu
Lin, Hua
Wang, Yuping
Liu, Ying
SEIZURE-EUROPEAN JOURNAL OF EPILEPSY, 2016, 41 : 81 - 85

← 1 2 3 4 5 →