scholarly article | Q13442814 |
P356 | DOI | 10.1016/S0387-7604(00)00178-9 |
P698 | PubMed publication ID | 11102728 |
P2093 | author name string | Y Hamada | |
T Fujii | |||
Y Higuchi | |||
H Hattori | |||
M Tsuji | |||
H Nigami | |||
P2860 | cites work | A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy | Q24308706 |
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns | Q24319094 | ||
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16 | Q24678116 | ||
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family | Q28115034 | ||
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptor | Q28235848 | ||
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese family | Q31950087 | ||
Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. | Q33854600 | ||
Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1. | Q34146383 | ||
Proof of a non-functional muscle chloride channel in recessive myotonia congenita (Becker) by detection of a 4 base pair deletion | Q34327010 | ||
Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita). | Q34327027 | ||
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 | ||
Benign partial epilepsy in infancy | Q34799049 | ||
Multicenter study of paroxysmal dyskinesias in Japan--clinical and pedigree analysis | Q48144096 | ||
An uncommon seizure disorder: familial paroxysmal choreoathetosis | Q51234236 | ||
Benign partial epilepsy with secondarily generalized seizures in infancy. | Q52224182 | ||
Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepine | Q57042985 | ||
Benign infantile familial convulsions | Q68019032 | ||
Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsied | Q72333586 | ||
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19q | Q73331973 | ||
Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesia | Q77700924 | ||
P433 | issue | 7 | |
P921 | main subject | Choreoathetosis | Q3693493 |
seizure | Q6279182 | ||
P304 | page(s) | 432-435 | |
P577 | publication date | 2000-10-01 | |
P1433 | published in | Brain and Development | Q15750896 |
P1476 | title | Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis | |
P478 | volume | 22 |
Q31012829 | A family with exercise-induced paroxysmal dystonia and childhood absence epilepsy |
Q36503334 | Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia. |
Q30528873 | PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine. |
Q61922613 | Paroxysmal dyskinesias in childhood |
Q80045090 | Paroxysmal kinesigenic choreoathetosis (PKC): confirmation of linkage to 16p11-q21, but unsuccessful detection of mutations among 157 genes at the PKC-critical region in seven PKC families |
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