SCOPUS 정보 검색 플랫폼

Neurology

Volumn 75, Issue 4, 2010, Pages 367-372

Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins

(7) Graves, T D a Rajakulendran, S a Zuberi, S M b Morris, H R c Schorge, S a Hanna, M G a Kullmann, D M a

a UNIVERSITY COLLEGE LONDON (United Kingdom)

b ROYAL HOSPITAL FOR SICK CHILDREN (United Kingdom)

c CARDIFF UNIVERSITY SCHOOL OF MEDICINE (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

VOLTAGE GATED POTASSIUM CHANNEL;

ADOLESCENT; ADULT; ARTICLE; ATAXIA; CHANNELOPATHY; CHILD; CLINICAL ARTICLE; DISEASE SEVERITY; EPISODIC ATAXIA TYPE 1; FAMILY STUDY; FEMALE; GAIT DISORDER; GENE MUTATION; HUMAN; INFANT; MALE; MONOZYGOTIC TWINS; MYOKYMIA; ONSET AGE; PEDIGREE ANALYSIS; PHENOTYPE; POINT MUTATION; PRIORITY JOURNAL; SYMPTOM; TWINS;

ADULT; AMINO ACID SEQUENCE; ATAXIA; CHILD, PRESCHOOL; EPILEPSY; FAMILY HEALTH; FEMALE; HUMANS; KV1.1 POTASSIUM CHANNEL; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; PHENOTYPE; SEVERITY OF ILLNESS INDEX; TWINS, MONOZYGOTIC; VIDEOTAPE RECORDING; YOUNG ADULT;

EID: 77955138887 PISSN: 00283878 EISSN: 1526632X Source Type: Journal
DOI: 10.1212/WNL.0b013e3181ea9ee3 Document Type: Article

Times cited : (40)

References (7)

1
- 33947506783
- Episodic ataxia type 1: A neuronal potassium channelopa-thy
- Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Episodic ataxia type 1: a neuronal potassium channelopa-thy. Neurotherapeutics 2007;4:258-266.
- (2007) Neurotherapeutics , vol.4 , pp. 258-266
- Rajakulendran, S.¹ Schorge, S.² Kullmann, D.M.³ Hanna, M.G.⁴

2
- 0028124225
- Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene
- Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994;8:136-140.
- (1994) KCNA1. Nat Genet , vol.8 , pp. 136-140
- Browne, D.L.¹ Gancher, S.T.² Nutt, J.G.³

3
- 70549084719
- Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release
- Heeroma JH, Henneberger C, Rajakulendran S, Hanna MG, Schorge S, Kullmann DM. Episodic ataxia type 1 mutations differentially affect neuronal excitability and transmitter release. Dis Model Mech 2009;2:612-619.
- (2009) Dis Model Mech , vol.2 , pp. 612-619
- Heeroma, J.H.¹ Henneberger, C.² Rajakulendran, S.³ Hanna, M.G.⁴ Schorge, S.⁵ Kullmann, D.M.⁶

4
- 56049119594
- A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1
- Imbrici P, Gualandi F, D'Adamo MC, et al. A novel KCNA1 mutation identified in an Italian family affected by episodic ataxia type 1. Neuroscience 2008; 157:577-587.
- (2008) Neuroscience , vol.157 , pp. 577-587
- Imbrici, P.¹ Gualandi, F.² D'Adamo, M.C.³

5
- 0037046207
- Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy
- Sugawara T, Mazaki-Miyazaki E, Fukushima K, et al. Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 2002;58:1122-1124.
- (2002) Neurology , vol.58 , pp. 1122-1124
- Sugawara, T.¹ Mazaki-Miyazaki, E.² Fukushima, K.³

6
- 0033883396
- Identical twins with long QT syndrome associated with a missense mutation in the S4 region of the HERG
- Hayashi K, Shimizu M, Ino H, et al. Identical twins with long QT syndrome associated with a missense mutation in the S4 region of the HERG. Jpn Heart J 2000; 41:399-404.
- (2000) Jpn Heart J , vol.41 , pp. 399-404
- Hayashi, K.¹ Shimizu, M.² Ino, H.³

7
- 0036897426
- Spinocerebellar ataxia in monozygotic twins
- Anderson JH, Christova PS, Xie T, Schott KS, Ward K, Gomez CM. Spinocerebellar ataxia in monozygotic twins. Arch Neurol 2002;59:1945-1951.
- (2002) Arch Neurol , vol.59 , pp. 1945-1951
- Anderson, J.H.¹ Christova, P.S.² Xie, T.³ Schott, K.S.⁴ Ward, K.⁵ Gomez, C.M.⁶

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.