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Choreoathetosis
- ... A, van Landeghem F, DiLauro R, Gruters A. Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2- ... NKX2-1 affecting 2 generations with hypothyroidism and choreoathetosis: part of the spectrum of brain-thyroid-lung ...
- ... familial infantile seizures (BFIS) and infantile convulsions and choreoathetosis (ICCA). BFIS is characterized by recurrent seizures that ... of PRRT2 PubMed CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; ICCA SEIZURES, BENIGN FAMILIAL INFANTILE, 2; BFIS2 PROLINE- ...
- ... by intellectual disability, uncontrollable movements of the limbs (choreoathetosis), and abnormal behavior. The mutation replaces the DNA ... RF. A new neurological syndrome with mental retardation, choreoathetosis, and abnormal behavior maps to chromosome Xp11. Am ...
- ... Myofibrillogenesis regulator 1 gene mutations cause paroxysmal dystonic choreoathetosis. Arch Neurol. 2004 Jul;61(7):1025-9. ...