Details of Disease

General Information of Disease (ID: DISC4ZQW)

• Disease Name: Hereditary episodic ataxia
• Synonyms: ea syndrome; episodic ataxia syndrome; Isaacs syndrome; episodic ataxia
• Definition: Hereditary episodic ataxia (EA) represents a group of neurological disorders characterized by recurrent episodes of ataxia and vertigo which may be progressive. Weakness, dystonia and ataxia are sometimes present in the interictal period. Seven types of EA have been described to date (EA type 1 to EA type 7), but most of the reported cases belong to EA1 and EA2.
• Disease Hierarchy:
  DIS6JNI3: Hereditary ataxia
  DISC4ZQW: Hereditary episodic ataxia
• Disease Identifiers:
  MONDO ID: MONDO_0016227
  MESH ID: C580065
  UMLS CUI: C1720189
  MedGen ID: 314033
  HPO ID: HP:0002131
  Orphanet ID: 211062
  SNOMED CT ID: 421455009

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 8 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
KCNA2	TTVFB0O	Limited	Genetic Variation	[1]
PRKCG	TTRFOXJ	Limited	Genetic Variation	[2]
ATP1A2	TT5B6HJ	moderate	Genetic Variation	[3]
FGF14	TTKJX1V	Strong	Genetic Variation	[4]
KCNA1	TTS3DIK	Strong	Genetic Variation	[5]
SCN2A	TTLJTUF	Strong	Biomarker	[6]
SLC1A3	TT8WRDA	Strong	Genetic Variation	[7]
SLC2A1	TT79TKF	Strong	Biomarker	[8]

This Disease Is Related to 1 DTP Molecule(s)

Gene Name	DTP ID	Evidence Level	Mode of Inheritance	REF
CACNB4	DTV8E46	Limited	Biomarker	[9]

This Disease Is Related to 4 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
DARS2	OTVPFTBG	Limited	Genetic Variation	[10]
PPP2R2B	OTSFVC82	Limited	Biomarker	[2]
PRRT2	OTCJUBDO	Limited	Genetic Variation	[11]
PNKD	OT6G9UXN	Strong	Genetic Variation	[8]

References

• [1] Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy.Neurology. 2016 Nov 8;87(19):1975-1984. doi: 10.1212/WNL.0000000000003309. Epub 2016 Oct 12.
• [2] PTPRR, cerebellum, and motor coordination.Cerebellum. 2009 Jun;8(2):71-3. doi: 10.1007/s12311-009-0118-4.
• [3] Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology. 2005 Aug 23;65(4):529-34. doi: 10.1212/01.wnl.0000172638.58172.5a.
• [4] Acetazolamide-Responsive Episodic Ataxia Linked to Novel Splice Site Variant in FGF14 Gene.Cerebellum. 2019 Jun;18(3):649-653. doi: 10.1007/s12311-018-0997-3.
• [5] A novel KCNA1 mutation in a patient with paroxysmal ataxia, myokymia, painful contractures and metabolic dysfunctions.Mol Cell Neurosci. 2017 Sep;83:6-12. doi: 10.1016/j.mcn.2017.06.006. Epub 2017 Jun 28.
• [6] Clinical and genetic spectrum of SCN2A-associated episodic ataxia.Eur J Paediatr Neurol. 2019 May;23(3):438-447. doi: 10.1016/j.ejpn.2019.03.001. Epub 2019 Mar 7.
• [7] A novel mutation in SLC1A3 causes episodic ataxia.J Hum Genet. 2018 Feb;63(2):207-211. doi: 10.1038/s10038-017-0365-z. Epub 2017 Dec 5.
• [8] The clinical and genetic heterogeneity of paroxysmal dyskinesias.Brain. 2015 Dec;138(Pt 12):3567-80. doi: 10.1093/brain/awv310. Epub 2015 Nov 23.
• [9] Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet. 2000 May;66(5):1531-9. doi: 10.1086/302909. Epub 2000 Apr 4.
• [10] Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation.J Med Genet. 2011 Oct;48(10):713-5. doi: 10.1136/jmg.2011.090282. Epub 2011 Jul 11.
• [11] Acute-Onset Ataxia and Transient Cerebellar Diffusion Restriction Associated with a PRRT2 Mutation.J Stroke Cerebrovasc Dis. 2019 Feb;28(2):e3-e4. doi: 10.1016/j.jstrokecerebrovasdis.2018.10.021. Epub 2018 Nov 28.