Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)

Known as: Convulsions, infantile, with paroxysmal choreoathetosis, familial, CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS, Paroxysmal Kinesigenic Dyskinesia with Infantile Convulsions 
An autosomal dominant inherited disorder characterized by epileptic seizures and paroxysmal kinesigenic choreoathetosis.
National Institutes of Health

Topic mentions per year

Topic mentions per year

1982-2018
05101519822018

Papers overview

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Highly Cited
2012
Highly Cited
2012
Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant… (More)
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2012
2012
OBJECTIVE Whole genome sequencing and the screening of 103 families recently led us to identify PRRT2 (proline-rich-transmembrane… (More)
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Highly Cited
2012
Highly Cited
2012
Paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) is an episodic movement disorder with autosomal-dominant… (More)
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2012
2012
OBJECTIVE To perform a clinical and genetic study of a family with benign familial infantile seizures (BFIS) and, upon finding a… (More)
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2001
2001
The syndrome of benign familial infantile convulsions (BFIC) is an autosomal dominant epileptic disorder that is characterized by… (More)
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2000
2000
Paroxysmal kinesigenic choreoathetosis (PKC) is a rare paroxysmal movement disorder characterized by recurrent and brief attacks… (More)
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1999
1999
We describe a pedigree in which 3 members in the same generation are affected by Rolandic epilepsy (RE), paroxysmal exercise… (More)
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1998
1998
We have studied one family of Chinese origin, in which benign infantile convulsions and paroxysmal choreoathetosis (of the… (More)
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Highly Cited
1987
Highly Cited
1987
Antibodies in sera from newly diagnosed insulin-dependent diabetes mellitus (IDDM) patients are directed to a human islet cell… (More)
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