loading...| Preferred Name |
EPISODIC ATAXIA, TYPE 1 |
| Synonyms |
AEMK |
| ID |
http://purl.bioontology.org/ontology/OMIM/160120 |
| altLabel |
AEMK AEM CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY ISAACS-MERTENS SYNDROME MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA MYOKYMIA 1 EPISODIC ATAXIA WITH MYOKYMIA EAM EA1 PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY ATAXIA, EPISODIC, WITH MYOKYMIA MYOKYMIA WITH PERIODIC ATAXIA |
| cui |
C0242287 C1834559 C2674766 C1719788 |
| Gene Locus |
12p13 |
| Gene Symbol |
AEMK KCNA1 EA1 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU000474 http://purl.bioontology.org/ontology/OMIM/MTHU003966 http://purl.bioontology.org/ontology/OMIM/MTHU000283 http://purl.bioontology.org/ontology/OMIM/MTHU000140 http://purl.bioontology.org/ontology/OMIM/MTHU041363 http://purl.bioontology.org/ontology/OMIM/MTHU036959 http://purl.bioontology.org/ontology/OMIM/MTHU036961 http://purl.bioontology.org/ontology/OMIM/MTHU018247 http://purl.bioontology.org/ontology/OMIM/MTHU021063 http://purl.bioontology.org/ontology/OMIM/MTHU026515 http://purl.bioontology.org/ontology/OMIM/MTHU015056 http://purl.bioontology.org/ontology/OMIM/MTHU003127 http://purl.bioontology.org/ontology/OMIM/MTHU021065 http://purl.bioontology.org/ontology/OMIM/MTHU036958 http://purl.bioontology.org/ontology/OMIM/MTHU041364 http://purl.bioontology.org/ontology/OMIM/MTHU036960 http://purl.bioontology.org/ontology/OMIM/MTHU036348 http://purl.bioontology.org/ontology/OMIM/MTHU016932 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| Moved from |
160100 121020 |
| notation |
160120 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
EPISODIC ATAXIA, TYPE 1 |
| Scope Statement |
Aura may occur [MISCELLANEOUS] Variable response to acetazolamide and carbamazepine [MISCELLANEOUS] Typical attacks last from seconds to minutes, but longer occurrences have been reported [MISCELLANEOUS] Symptoms precipitated by sudden movement, stress, exertion, fatigue, illness [MISCELLANEOUS] Some patients may develop interictal progressive ataxia [MISCELLANEOUS] Caused by mutation in the potassium voltage-gated channel, shaker-related subfamily, member 1 gene (KCNA1, 176260.0001) [MOLECULAR BASIS] Onset in childhood [MISCELLANEOUS] Highly variable severity [MISCELLANEOUS] |
| tui |
T047 |