102 related articles for article (PubMed ID: 11013453)
1. Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem.
Knight MA; Storey E; McKinlay Gardner RJ; Hand P; Forrest SM
Hum Mutat; 2000 Oct; 16(4):374. PubMed ID: 11013453
[No Abstract] [Full Text] [Related]
2. A novel mutation in KCNA1 causes episodic ataxia without myokymia.
Lee H; Wang H; Jen JC; Sabatti C; Baloh RW; Nelson SF
Hum Mutat; 2004 Dec; 24(6):536. PubMed ID: 15532032
[TBL] [Abstract][Full Text] [Related]
3. Three novel KCNA1 mutations in episodic ataxia type I families.
Scheffer H; Brunt ER; Mol GJ; van der Vlies P; Stulp RP; Verlind E; Mantel G; Averyanov YN; Hofstra RM; Buys CH
Hum Genet; 1998 Apr; 102(4):464-6. PubMed ID: 9600245
[TBL] [Abstract][Full Text] [Related]
4. Episodic ataxia type 1 with distal weakness: a novel manifestation of a potassium channelopathy.
Klein A; Boltshauser E; Jen J; Baloh RW
Neuropediatrics; 2004 Apr; 35(2):147-9. PubMed ID: 15127317
[TBL] [Abstract][Full Text] [Related]
5. Genetics of episodic ataxia.
Jen JC; Baloh RW
Adv Neurol; 2002; 89():459-61. PubMed ID: 11968470
[No Abstract] [Full Text] [Related]
6. [Episodic ataxia with myokymia].
Sasaki H; Yabe I
Ryoikibetsu Shokogun Shirizu; 2002; (37 Pt 6):318-21. PubMed ID: 12483891
[No Abstract] [Full Text] [Related]
7. Episodic ataxia and myokymia syndrome: a new mutation of potassium channel gene Kv1.1.
Comu S; Giuliani M; Narayanan V
Ann Neurol; 1996 Oct; 40(4):684-7. PubMed ID: 8871592
[TBL] [Abstract][Full Text] [Related]
8. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.
Eunson LH; Rea R; Zuberi SM; Youroukos S; Panayiotopoulos CP; Liguori R; Avoni P; McWilliam RC; Stephenson JB; Hanna MG; Kullmann DM; Spauschus A
Ann Neurol; 2000 Oct; 48(4):647-56. PubMed ID: 11026449
[TBL] [Abstract][Full Text] [Related]
9. Identification of two new KCNA1 mutations in episodic ataxia/myokymia families.
Browne DL; Brunt ER; Griggs RC; Nutt JG; Gancher ST; Smith EA; Litt M
Hum Mol Genet; 1995 Sep; 4(9):1671-2. PubMed ID: 8541859
[No Abstract] [Full Text] [Related]
10. Novel mutation in KCNA1 causes episodic ataxia with paroxysmal dyspnea.
Shook SJ; Mamsa H; Jen JC; Baloh RW; Zhou L
Muscle Nerve; 2008 Mar; 37(3):399-402. PubMed ID: 17912752
[TBL] [Abstract][Full Text] [Related]
11. Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy.
Spauschus A; Eunson L; Hanna MG; Kullmann DM
Ann N Y Acad Sci; 1999 Apr; 868():442-6. PubMed ID: 10414318
[No Abstract] [Full Text] [Related]
12. Expanding the phenotype of potassium channelopathy: severe neuromyotonia and skeletal deformities without prominent Episodic Ataxia.
Kinali M; Jungbluth H; Eunson LH; Sewry CA; Manzur AY; Mercuri E; Hanna MG; Muntoni F
Neuromuscul Disord; 2004 Oct; 14(10):689-93. PubMed ID: 15351427
[TBL] [Abstract][Full Text] [Related]
13. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1.
Browne DL; Gancher ST; Nutt JG; Brunt ER; Smith EA; Kramer P; Litt M
Nat Genet; 1994 Oct; 8(2):136-40. PubMed ID: 7842011
[TBL] [Abstract][Full Text] [Related]
14. Clinical features of a large Australian pedigree with episodic ataxia type 1.
Hand PJ; Gardner RJ; Knight MA; Forrest SM; Storey E
Mov Disord; 2001 Sep; 16(5):938-9. PubMed ID: 11746627
[No Abstract] [Full Text] [Related]
15. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel.
Spacey SD; Hildebrand ME; Materek LA; Bird TD; Snutch TP
Ann Neurol; 2004 Aug; 56(2):213-20. PubMed ID: 15293273
[TBL] [Abstract][Full Text] [Related]
16. A novel KCNA1 mutation in a family with episodic ataxia and malignant hyperthermia.
Mestre TA; Manole A; MacDonald H; Riazi S; Kraeva N; Hanna MG; Lang AE; Männikkö R; Yoon G
Neurogenetics; 2016 Oct; 17(4):245-249. PubMed ID: 27271339
[TBL] [Abstract][Full Text] [Related]
17. A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.
Imbrici P; Altamura C; Gualandi F; Mangiatordi GF; Neri M; De Maria G; Ferlini A; Padovani A; D'Adamo MC; Nicolotti O; Pessia M; Conte D; Filosto M; Desaphy JF
Mol Cell Neurosci; 2017 Sep; 83():6-12. PubMed ID: 28666963
[TBL] [Abstract][Full Text] [Related]
18. [Episodic ataxias].
Herrmann A; Braathen GJ; Russell MB
Tidsskr Nor Laegeforen; 2005 Aug; 125(15):2005-7. PubMed ID: 16100538
[TBL] [Abstract][Full Text] [Related]
19. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.
Zuberi SM; Eunson LH; Spauschus A; De Silva R; Tolmie J; Wood NW; McWilliam RC; Stephenson JB; Kullmann DM; Hanna MG
Brain; 1999 May; 122 ( Pt 5)():817-25. PubMed ID: 10355668
[TBL] [Abstract][Full Text] [Related]
20. Episodic ataxia type-1 mutations in the Kv1.1 potassium channel display distinct folding and intracellular trafficking properties.
Manganas LN; Akhtar S; Antonucci DE; Campomanes CR; Dolly JO; Trimmer JS
J Biol Chem; 2001 Dec; 276(52):49427-34. PubMed ID: 11679591
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
