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Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessAtaxia, episodic; differential diagnosis


Short information

Comprehensive differential diagnostic panel for episodic ataxia comprising 2 guideline-curated and another 8 curated genes according to the clinical signs

Number of genes
10 Accredited laboratory test
Examined sequence length
14,6 kb (Core-/Core-canditate-Genes)
38,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications



Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity

Informations about the disease

Clinical Comment

Episodic ataxia refers to a group of related disorders that result in recurrent episodes of incoordination and ataxia. During these episodes, many patients also suffer from dizziness, nausea/vomiting, migraines, blurred or double vision, slurred speech and tinnitus. Seizures and hemiplegia may also occur during the episodes. In addition, some patients experience myokymia during or between seizures, with muscle spasms, stiffness and continuous fine muscle twitching/spasms under the skin. Ataxia episodes and the other symptoms can occur from early childhood into adulthood. They can be triggered by emotional stress, caffeine, alcohol, certain medications, physical activity and illness. The frequency of episodes ranges from several per episode to 1-2/year. Between episodes, some sufferers continue to experience ataxia, which can worsen over time, as well as additional nystagmus. There are at least 7 types of episodic ataxia, distinguished by symptoms, age of onset, duration of attacks and, if known, their genetic basis. Episodic ataxia can be caused by mutations in several genes, e.g. KCNA1, CACNA1A and CACNB4 as channel disorders relating to episodic ataxia types 1, 2 and 5, respectively. Mutations in the SLC1A3 gene are the cause of episodic ataxia type 6, a neurotransmitter disorder. In these 4 types, certain neurons become overexcited and disrupt normal communication between cells. The genetics for some of the other forms of episodic ataxia have not yet been worked out. Episodic ataxia is inherited in an autosomal dominant manner. As the molecular genetic yield rarely exceeds 60% of cases, a negative DNA test result does not exclude the clinical diagnosis.

References: https://www.ncbi.nlm.nih.gov/books/NBK25442/





  • Alias: Hereditary episodic ataxia
  • Allelic: Alternating hemiplegia of childhood 2; Dystonia-12 (ATP1A3)
  • Allelic: Catastrophic epilepsy, unusual apnea spells + postnatal microcephaly (ATP1A3)
  • Allelic: Rapid-onset dystonia-parkinsonism (ATP1A3)
  • Acetazolamide-responsive hereditary paroxysmal cerebellar ataxia (CACNA1A)
  • Allelic: Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
  • Allelic: Developmental + epileptic encephalopathy 11 (SCN2A)
  • Allelic: Myasthenic syndrome, congenital, 25 (VAMP1)
  • Allelic: Seizures, benign familial infantile, 2 (PRRT2)
  • Allelic: Seizures, benign familial infantile, 3 (SCN2A)
  • CACNA1A-related episodic ataxia type 2 (CACNA1A)
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss, CAPOS (ATP1A3)
  • Epilepsy, juvenile myoclonic, 6 (CACNB4)
  • Episodic ataxia [panelapp] (UBR4)
  • Episodic ataxia, nystagmus-associated (CACNA1A)
  • Episodic ataxia, type 1 (KCNA1)
  • Episodic ataxia, type 2, EA2 (CACNA1A)
  • Episodic ataxia, type 5 (CACNB4)
  • Episodic ataxia, type 6 (SLC1A3)
  • Episodic ataxia, type 9 (SCN2A)
  • Episodic ataxia-8 [OMIM preliminary designation] (UBR4)
  • Episodic ataxia/myokymia syndrome (KCNA1)
  • Episodic kinesigenic dyskinesia 1 (PRRT2)
  • Hypomagnesemia, AD (KCNA1)
  • Migraine familial hemiplegic 1 (CACNA1A)
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
  • Myokymia with periodic ataxia (KCNA1)
  • Paroxysmal nonkinesigenic dyskinesia 1 (PNKD)
  • Spastic ataxia 1, AD (VAMP1)
  • Spinocerebellar ataxia 6 (CACNA1A)
  • Susceptibility to epilepsy, idiopathic generalized, 9 (CACNB4)
Heredity, heredity patterns etc.
  • AD
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined