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5. 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]
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7. 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]
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13. Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake. de Vries B; Mamsa H; Stam AH; Wan J; Bakker SL; Vanmolkot KR; Haan J; Terwindt GM; Boon EM; Howard BD; Frants RR; Baloh RW; Ferrari MD; Jen JC; van den Maagdenberg AM Arch Neurol; 2009 Jan; 66(1):97-101. PubMed ID: 19139306 [TBL] [Abstract][Full Text] [Related]
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17. Episodic ataxia type 2 (EA2) with interictal myokymia and focal dystonia. Nielsen EN; Ásbjörnsdóttir B; Møller LB; Nielsen JE; Lindquist SG Cold Spring Harb Mol Case Stud; 2022 Oct; 8(6):. PubMed ID: 36307210 [TBL] [Abstract][Full Text] [Related]
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19. [Spinocerebellar ataxias in infancy: pathogenesis of potassium and calcium channels' diseases, clinical features and therapeutical approach]. Bozzola E; Savasta S; Peruzzi C; Bozzola M; Bona G Minerva Pediatr; 2007 Apr; 59(2):149-56. PubMed ID: 17404565 [TBL] [Abstract][Full Text] [Related]
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