EA9
MCID: EPS048
MIFTS: 26

Episodic Ataxia, Type 9 (EA9)

Categories: Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Episodic Ataxia, Type 9

MalaCards integrated aliases for Episodic Ataxia, Type 9:

Name: Episodic Ataxia, Type 9 57
Episodic Ataxia Type 9 29 6
Ea9 57 73
Episodic Ataxia 9 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
variable phenotype
de novo mutation (in most patients)
onset of ataxia in the first few years of life
episodes show variable frequency (days, weeks, months, years)
episodes usually last minutes to hours
longer duration has been reported
favorable response of ataxia to acetazolamide (in about 50% of patients)


HPO:

31
episodic ataxia, type 9:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM® 57 618924
OMIM Phenotypic Series 57 PS160120
MeSH 44 D001259

Summaries for Episodic Ataxia, Type 9

OMIM® : 57 Episodic ataxia type 9 (EA9) is a neurologic disorder characterized by onset of ataxic episodes in the first years of life. Features may include difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The ataxic episodes vary in frequency and duration; most tend to occur every few weeks or months and last minutes to hours. Prior to the EA, most patients have neonatal- or infantile-onset tonic or generalized tonic-clonic (GTC) seizures that may be severe and refractory to medication, but remit later in infancy or early childhood, either spontaneously or concurrently with medication. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development. However, others show normal psychomotor development. Treatment of the ataxic episodes with acetazolamide is effective in about 50% of patients (summary by Schwarz et al., 2019). For a phenotypic description and discussion of genetic heterogeneity of episodic ataxia, see EA1 (160120). (618924) (Updated 05-Mar-2021)

MalaCards based summary : Episodic Ataxia, Type 9, also known as episodic ataxia type 9, is related to ataxia and polyneuropathy, adult-onset and learning disability. An important gene associated with Episodic Ataxia, Type 9 is SCN2A (Sodium Voltage-Gated Channel Alpha Subunit 2). Related phenotypes are nystagmus and vomiting

UniProtKB/Swiss-Prot : 73 Episodic ataxia 9: An autosomal dominant neurologic disorder characterized by episodic ataxia manifesting in the first years of life, early-onset seizures, difficulty walking, dizziness, slurred speech, headache, vomiting, and pain. The duration of ataxic episodes is heterogeneous. Most patients show episodes lasting minutes to maximum several hours, but periods lasting days up to weeks have been reported. Some patients have mildly delayed development with speech delay and/or autistic features or mildly impaired intellectual development.

Related Diseases for Episodic Ataxia, Type 9

Diseases in the Episodic Ataxia family:

Episodic Ataxia, Type 2 Episodic Ataxia, Type 1
Episodic Ataxia, Type 4 Episodic Ataxia, Type 3
Episodic Ataxia, Type 7 Episodic Ataxia, Type 6
Episodic Ataxia, Type 5 Episodic Ataxia, Type 8
Episodic Ataxia, Type 9 Hereditary Episodic Ataxia

Diseases related to Episodic Ataxia, Type 9 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ataxia and polyneuropathy, adult-onset 10.0
2 learning disability 10.0
3 episodic ataxia 10.0
4 pathologic nystagmus 10.0
5 tremor 10.0

Graphical network of the top 20 diseases related to Episodic Ataxia, Type 9:



Diseases related to Episodic Ataxia, Type 9

Symptoms & Phenotypes for Episodic Ataxia, Type 9

Human phenotypes related to Episodic Ataxia, Type 9:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 nystagmus 31 very rare (1%) HP:0000639
2 vomiting 31 very rare (1%) HP:0002013
3 dystonia 31 very rare (1%) HP:0001332
4 encephalopathy 31 very rare (1%) HP:0001298
5 status epilepticus 31 very rare (1%) HP:0002133
6 episodic ataxia 31 very rare (1%) HP:0002131
7 arachnoid cyst 31 very rare (1%) HP:0100702
8 paroxysmal vertigo 31 very rare (1%) HP:0010532
9 cerebellar edema 31 very rare (1%) HP:0030915
10 delayed ability to stand 31 very rare (1%) HP:0025335
11 bilateral tonic-clonic seizure 31 very rare (1%) HP:0002069
12 tonic seizure 31 very rare (1%) HP:0032792
13 clonic seizure 31 very rare (1%) HP:0020221

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
clonus
dysarthria
tremor
vertigo
dystonia
more
Respiratory:
hyperventilation
breath-holding episodes

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder (in some patients)

Head And Neck Eyes:
nystagmus

Abdomen Gastrointestinal:
vomiting, episodic

Clinical features from OMIM®:

618924 (Updated 05-Mar-2021)

Drugs & Therapeutics for Episodic Ataxia, Type 9

Search Clinical Trials , NIH Clinical Center for Episodic Ataxia, Type 9

Genetic Tests for Episodic Ataxia, Type 9

Genetic tests related to Episodic Ataxia, Type 9:

# Genetic test Affiliating Genes
1 Episodic Ataxia Type 9 29 SCN2A

Anatomical Context for Episodic Ataxia, Type 9

Publications for Episodic Ataxia, Type 9

Articles related to Episodic Ataxia, Type 9:

(show all 12)
# Title Authors PMID Year
1
Dominant SCN2A Mutation Causes Familial Episodic Ataxia and Impairment of Speech Development. 57 6
30165711 2018
2
SCN2A p.Ala263Val Variant a Phenotype of Neonatal Seizures Followed by Paroxysmal Ataxia in Toddlers. 6 57
28065826 2017
3
Letter to the editor: confirming neonatal seizure and late onset ataxia in SCN2A Ala263Val. 6 57
27159988 2016
4
Mutations in the sodium channel gene SCN2A cause neonatal epilepsy with late-onset episodic ataxia. 6 57
26645390 2016
5
Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings. 6 57
23550958 2013
6
SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 57 6
20956790 2010
7
Clinical and genetic spectrum of SCN2A-associated episodic ataxia. 57
30928199 2019
8
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders. 6
28379373 2017
9
Episodic ataxia associated with a de novo SCN2A mutation. 6
27328862 2016
10
Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis. 6
26993267 2016
11
SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures. 57
26291284 2015
12
FGF14-related episodic ataxia: delineating the phenotype of Episodic Ataxia type 9. 61
32162847 2020

Variations for Episodic Ataxia, Type 9

ClinVar genetic disease variations for Episodic Ataxia, Type 9:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SCN2A NM_001040142.2(SCN2A):c.5644C>G (p.Arg1882Gly) SNV Pathogenic 207028 rs796053166 2:166245960-166245960 2:165389450-165389450
2 SCN2A NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) SNV Pathogenic 130214 rs147522594 2:166243269-166243269 2:165386759-165386759
3 SCN2A NM_001040142.2(SCN2A):c.3955C>T (p.Arg1319Trp) SNV Pathogenic 410982 rs190111194 2:166229840-166229840 2:165373330-165373330
4 SCN2A NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) SNV Pathogenic 29888 rs387906686 2:166166923-166166923 2:165310413-165310413
5 SCN2A NM_001040142.2(SCN2A):c.4901G>A (p.Gly1634Asp) SNV Pathogenic 932954 rs796053159 2:166245217-166245217 2:165388707-165388707
6 SCN2A NM_001040142.2(SCN2A):c.4949T>C (p.Leu1650Pro) SNV Pathogenic 870747 2:166245265-166245265 2:165388755-165388755
7 SCN2A NM_001040142.2(SCN2A):c.4822+1G>A SNV Likely pathogenic 988710 2:166243527-166243527 2:165387017-165387017
8 SCN2A NM_001040142.2(SCN2A):c.1912del (p.Leu638fs) Deletion Likely pathogenic 988714 2:166179905-166179905 2:165323395-165323395
9 SCN2A NM_001040142.2(SCN2A):c.843G>A (p.Trp281Ter) SNV Likely pathogenic 946767 2:166166978-166166978 2:165310468-165310468

Expression for Episodic Ataxia, Type 9

Search GEO for disease gene expression data for Episodic Ataxia, Type 9.

Pathways for Episodic Ataxia, Type 9

GO Terms for Episodic Ataxia, Type 9

Sources for Episodic Ataxia, Type 9

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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