| scholarly article | Q13442814 |
| P2093 | author name string | E Bertini | |
| S Servidei | |||
| L J Ptácek | |||
| G T Fouad | |||
| S Durcan | |||
| P2860 | cites work | Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias | Q24311437 |
| Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1 | Q24312199 | ||
| Identification of a mutation in the gene causing hyperkalemic periodic paralysis | Q24314688 | ||
| A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome | Q24316980 | ||
| SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome | Q24317024 | ||
| Molecular cloning, expression, and chromosomal localization of two isoforms of the AE3 anion exchanger from human heart | Q24321917 | ||
| Mutations in the alpha 1 subunit of the inhibitory glycine receptor cause the dominant neurologic disorder, hyperekplexia | Q24336984 | ||
| Temperature-sensitive mutations in the III–IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita | Q28208914 | ||
| Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita | Q28210343 | ||
| A calcium channel mutation causing hypokalemic periodic paralysis | Q28242375 | ||
| Dihydropyridine receptor mutations cause hypokalemic periodic paralysis | Q28243593 | ||
| Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis | Q28263410 | ||
| A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis | Q28305953 | ||
| Regulation of intracellular pH by a neuronal homolog of the erythrocyte anion exchanger | Q28587528 | ||
| Multilocus linkage analysis in humans: detection of linkage and estimation of recombination | Q29620848 | ||
| The predicted translation product of a cardiac AE3 mRNA contains an N terminus distinct from that of the brain AE3 Cl-/HCO3- exchanger. Cloning of a cardiac AE3 cDNA, organization of the AE3 gene, and identification of an alternative transcription i | Q33209871 | ||
| Paroxysmal dyskinesias: clinical features and classification | Q34296711 | ||
| Molecular cloning and physical and genetic mapping of the human anion exchanger isoform 3 (SLC2C) gene to chromosome 2q36. | Q34328335 | ||
| A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. | Q34734689 | ||
| Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features | Q43506877 | ||
| Paroxysmal kinesigenic choreoathetosis with abnormal electroencephalogram during attacks | Q67940124 | ||
| Paroxysmal choreoathetosis: an epileptic or non-epileptic disorder? | Q70825504 | ||
| Ionic mechanisms of neuronal excitation by inhibitory GABAA receptors | Q71967834 | ||
| Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied | Q72333586 | ||
| P433 | issue | 1 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | dyskinesia | Q629444 |
| Paroxysmal dyskinesia | Q7139584 | ||
| P304 | page(s) | 135-139 | |
| P577 | publication date | 1996-07-01 | |
| P1433 | published in | American Journal of Human Genetics | Q4744249 |
| P1476 | title | A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q | |
| P478 | volume | 59 |
| Q24672784 | A new family with paroxysmal exercise induced dystonia and migraine: a clinical and genetic study |
| Q34145749 | A novel syndrome of episodic muscle weakness maps to xp22.3. |
| Q28205177 | Cervical dystonia pathophysiology and treatment options |
| Q34457364 | Diagnosis and management of acute movement disorders |
| Q34156323 | Diagnosis and treatment of paroxysmal dyskinesias revisited |
| Q24300992 | Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia |
| Q24678116 | Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 |
| Q34974400 | Genetics of paroxysmal dyskinesias |
| Q24678061 | Hereditary geniospasm: linkage to chromosome 9q13-q21 and evidence for genetic heterogeneity |
| Q57812194 | Long-term improvement of paroxysmal dystonic choreathetosis with acetazolamide |
| Q28266717 | Mapping of the human Ca2+ channel beta 4 subunit to 2q22-23 and its expression in developing mouse |
| Q24530146 | Nab1, a corepressor of NGFI-A (Egr-1), contains an active transcriptional repression domain |
| Q73489512 | Paroxysmal Dyskinesias in Children |
| Q34146383 | Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. |
| Q47819833 | The PNKD gene is associated with Tourette Disorder or Tic disorder in a multiplex family. |
| Q74582397 | The dystonias |
| Q39090098 | The epileptic and nonepileptic spectrum of paroxysmal dyskinesias: Channelopathies, synaptopathies, and transportopathies |
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