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  • 中国科学院研究生院(1)
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1    
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures 期刊论文

AMERICAN JOURNAL OF HUMAN GENETICS     ISSN:0002-9297  Volume:96  Issue:5  Page:808-815  

Carvill GL;   McMahon JM;   Schneider A;   Zemel M;   Myers CT;   ...

来源数据库: [Web of Science, Science Citation Index Expanded, Neurosciences Abstracts],

被引频次:54

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2    
Expansions of intronic TTTCA and TTTTA repeats in benign adult familial myoclonic epilepsy 期刊论文

NATURE GENETICS     ISSN:1061-4036  Volume:50  Issue:4  Page:581-581  

Ishiura H;   Doi K;   Mitsui J;   Yoshimura J;   Matsukawa MK;   ...

来源数据库: [Web of Science, Science Citation Index Expanded, Virology and AIDS Abstracts],

被引频次:21

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3    
De Novo Loss-of-Function Mutations in CHD2 Cause a Fever-Sensitive Myoclonic Epileptic Encephalopathy Sharing Features with Dravet Syndrome 期刊论文

The American Journal of Human Genetics     ISSN:0002-9297  Volume:93  Issue:5  Page:967-975  

Suls Arvid;   Jaehn Johanna A;   Kecskés Angela;   Weber Yvonne;   Weckhuysen Sarah;   ...

来源数据库: [Web of Science, Science Citation Index Expanded, Environmental Sciences and Pollution Management],

被引频次:100

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4    
Repeat expansions in myoclonic epilepsy 期刊论文

NATURE GENETICS     ISSN:1061-4036  Volume:50  Issue:4  Page:477-478  

van Blitterswijk M;   Rademakers R;  

来源数据库: [Web of Science, Science Citation Index Expanded, MEDLINE - Academic],

被引频次:0

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5    
Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy 期刊论文

Nature Neuroscience     ISSN:1097-6256  Volume:9  Issue:9  Page:1142-1149  

Mantegazza Massimo;   Robbins Carol A;   Scheuer Todd;   Spain William J;   Yu Frank H;   ...

来源数据库: [Web of Science, Science Citation Index Expanded, Environmental Sciences and Pollution Management],

被引频次:509

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6    
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2) 期刊论文

HUMAN MOLECULAR GENETICS   ISSN:0964-6906,1460-2083  Volume:8  Issue:2  Page:345-352  

Serratosa JM;   Gomez-Garre P;   Gallardo ME;   Anta B;   de Bernabe DBV;   ...

来源数据库: [Web of Science, Science Citation Index Expanded, Neurosciences Abstracts],

被引频次:144

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7    
De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy 期刊论文

The American Journal of Human Genetics     ISSN:0002-9297  Volume:68  Issue:6  Page:1327-1332  

Claes Lieve;   Del-Favero Jurgen;   Ceulemans Berten;   Lagae Lieven;   Van Broeckhoven Christine;   ...

来源数据库: [Web of Science, Science Citation Index Expanded, Genetics Abstracts],

被引频次:697

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8    
Identification of variants in the mitochondrial lysine‐tRNA (MT‐TK) gene in myoclonic epilepsy—pathogenicity evaluation and structural charact... 期刊论文

Journal of Cellular Biochemistry     ISSN:0730-2312  Volume:119  Issue:7  Page:6258-6265  

Nadeem Muhammad S;   Ahmad Habib;   Mohammed Kaleemuddin;   Muhammad Khushi;   Ullah Inam;   ...

来源数据库: [MEDLINE, Environmental Sciences and Pollution Management],

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9    
Autistic-like behaviour in Scn1a(+/-) mice and rescue by enhanced GABA-mediated neurotransmission 期刊论文

NATURE   ISSN:0028-0836  Volume:489  Issue:7416  Page:385-390  

Han S;   Tai C;   Westenbroek RE;   Yu FH;   Cheah CS;   ...

来源数据库: [Web of Science, Science Citation Index Expanded, MEDLINE - Academic],

被引频次:256

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10    
Treatment of myoclonic-atonic epilepsy caused by SLC2A1 de novo mutation with ketogenic diet: A case report 期刊论文

Medicine   ISSN:0025-7974  Volume:98  Issue:18  Page:e15428-e15428  

Wei Zihan;   Wang Luojun;   Deng Yanchun;  

来源数据库: [MEDLINE, MEDLINE - Academic],

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