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Liu, D. KCNA1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/4276 (accessed on 26 September 2026).
Liu D. KCNA1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/4276. Accessed September 26, 2026.
Liu, Dean. "KCNA1 Gene" Encyclopedia, https://encyclopedia.pub/entry/4276 (accessed September 26, 2026).
Liu, D. (2020, December 23). KCNA1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/4276
Liu, Dean. "KCNA1 Gene." Encyclopedia. Web. 23 December, 2020.
KCNA1 Gene
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/gene/kcna1

Potassium voltage-gated channel subfamily A member 1

genes

References

  1. Browne DL, Gancher ST, Nutt JG, Brunt ER, Smith EA, Kramer P, Litt M. Episodicataxia/myokymia syndrome is associated with point mutations in the humanpotassium channel gene, KCNA1. Nat Genet. 1994 Oct;8(2):136-40.
  2. Chen H, von Hehn C, Kaczmarek LK, Ment LR, Pober BR, Hisama FM. Functionalanalysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia.Neurogenetics. 2007 Apr;8(2):131-5.
  3. Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, AvoniP, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A. Clinical,genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann Neurol. 2000 Oct;48(4):647-56.
  4. Jen JC, Graves TD, Hess EJ, Hanna MG, Griggs RC, Baloh RW; CINCHinvestigators. Primary episodic ataxias: diagnosis, pathogenesis and treatment.Brain. 2007 Oct;130(Pt 10):2484-93.
  5. Maylie B, Bissonnette E, Virk M, Adelman JP, Maylie JG. Episodic ataxia type 1mutations in the human Kv1.1 potassium channel alter hKvbeta 1-induced N-typeinactivation. J Neurosci. 2002 Jun 15;22(12):4786-93.
  6. Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Episodic ataxia type 1: aneuronal potassium channelopathy. Neurotherapeutics. 2007 Apr;4(2):258-66.Review.
  7. Rea R, Spauschus A, Eunson LH, Hanna MG, Kullmann DM. Variable K(+) channelsubunit dysfunction in inherited mutations of KCNA1. J Physiol. 2002 Jan 1;538(Pt1):5-23.
  8. Zerr P, Adelman JP, Maylie J. Episodic ataxia mutations in Kv1.1 alterpotassium channel function by dominant negative effects or haploinsufficiency. J Neurosci. 1998 Apr 15;18(8):2842-8.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Dean Liu
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Entry Collection: MedlinePlus
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Update Date: 23 Dec 2020
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