has material basis in germline mutation in CACNA1A episodic ataxia type 2 https://github.com/monarch-initiative/mondo/issues/5753 https://www.malacards.org/card/episodic_ataxia_type_2_2 episodic ataxia, type 2 CACNA1A hereditary episodic ataxia SCTID:420932006 UMLS:C1720416 A form of hereditary episodic ataxia (EA) characterized by paroxysmal episodes of ataxia lasting hours, with interictal nystagmus and mildly progressive ataxia. MEDGEN:314039 Acetazolamide-responsive, hereditary, paroxysmal, cerebellar ataxia Nystagmus-associated episodic ataxia episodic ataxia with nystagmus OMIM:108500 DOID:0050990 ataxia, familial, paroxysmal MESH:C535506 Acetazolamide-responsive episodic ataxia syndrome MONDO:0007163 EA2 GARD:0009602 episodic ataxia type 2 hereditary episodic ataxia caused by mutation in CACNA1A CAPA Orphanet:97 APCA hereditary episodic ataxia CACNA1A-related complex neurodevelopmental disorder