Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis

scientific article published on 01 October 2000

Co-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/S0387-7604(00)00178-9
P698PubMed publication ID11102728

P2093author name stringY Hamada
T Fujii
Y Higuchi
H Hattori
M Tsuji
H Nigami
P2860cites workA missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsyQ24308706
A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newbornsQ24319094
Familial infantile convulsions and paroxysmal choreoathetosis: a new neurological syndrome linked to the pericentromeric region of human chromosome 16Q24678116
A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy familyQ28115034
Evidence for recessive as well as dominant forms of startle disease (hyperekplexia) caused by mutations in the alpha 1 subunit of the inhibitory glycine receptorQ28235848
Association of infantile convulsions with paroxysmal dyskinesias (ICCA syndrome): confirmation of linkage to human chromosome 16p12-q12 in a Chinese familyQ31950087
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 deletionQ34327010
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 infancyQ34799049
Multicenter study of paroxysmal dyskinesias in Japan--clinical and pedigree analysisQ48144096
An uncommon seizure disorder: familial paroxysmal choreoathetosisQ51234236
Benign partial epilepsy with secondarily generalized seizures in infancy.Q52224182
Exquisite sensitivity of paroxysmal kinesigenic choreoathetosis to carbamazepineQ57042985
Benign infantile familial convulsionsQ68019032
Paroxysmal kinesigenic choreoathetosis: An entity within the paroxysmal choreoathetosis syndrome. Description of 10 cases, including 1 autopsiedQ72333586
Linkage mapping of benign familial infantile convulsions (BFIC) to chromosome 19qQ73331973
Clinical manifestations of 20 Taiwanese patients with paroxysmal kinesigenic dyskinesiaQ77700924
P433issue7
P921main subjectChoreoathetosisQ3693493
seizureQ6279182
P304page(s)432-435
P577publication date2000-10-01
P1433published inBrain and DevelopmentQ15750896
P1476titleCo-segregation of benign infantile convulsions and paroxysmal kinesigenic choreoathetosis
P478volume22

Reverse relations

cites work (P2860)
Q31012829A family with exercise-induced paroxysmal dystonia and childhood absence epilepsy
Q36503334Genetic and phenotypic heterogeneity in sporadic and familial forms of paroxysmal dyskinesia.
Q30528873PRRT2 mutations in familial infantile seizures, paroxysmal dyskinesia, and hemiplegic migraine.
Q61922613Paroxysmal dyskinesias in childhood
Q80045090Paroxysmal 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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