Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

Cao, Li; Huang, Xiaojun; Zheng, Lan; Xiao, Qiang; Wang, Xijin; Chen, Shengdi

doi:10.1016/j.parkreldis.2012.02.006

Cited by 53 publications

(53 citation statements)

References 3 publications

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“…12 Heterozygous c.649dupC is a mutation hotspot of which the mutation detection rate for Chinese can be as high as 62%. 13 Our findings also suggest that the majority (81.3%; 95% confidence interval, 57.0%-93.4%) of PKD patients (13 out of 16) carried the c.649dupC mutation.…”

Section: Discussionsupporting

confidence: 62%

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients

et al. 2016

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Patient 1 was a 47-year-old woman who presented with paroxysmal abnormal movement since childhood. She was first seen in 2004. The attack was characterised by dystonic painful posture with upward or downward deviation of the eyes, head turning, shoulder abduction and extensions, lower limb dystonia, impaired speech, and occasionally stepping movements, with preserved consciousness. The attacks lasted for 1 to 2 minutes with a frequency of up to 8 times a day. Each attack was precipitated by stress or being startled, for example, being approached by a car unexpectedly when crossing the road, frightened by a cockroach, a sudden phone call, or an abrupt movement. Occasionally, the attack could occur during sleep. There was no incontinence. The patient had normal intelligence. Physical examination, biochemical tests, computed tomography of the brain, and electroencephalography were normal. The attacks were controlled with carbamazepine and frequency of attacks reduced to fewer than 3 times a day and each episode was shortened to 10 to 20 seconds. The patient also had a history of seizure of unknown aetiology in childhood. She had a strong family history; her daughter has presented with seizure on two to three occasions since the age of 10 months and had been taking an anticonvulsant for 2 years. Since then she had experienced no further seizures and by the age of 4 years no antiepileptic drug or follow-up has been required. Two older sisters and a nephew of the proband also had childhood seizures. Family 2Patient 2 was a 26-year-old woman who presented with paroxysmal kinesigenic dyskinesia (PKD) since the age of 8 years. The patient first presented with episodes of afebrile seizure at 7 months old in 1997. She was prescribed phenobarbitone and required no further medication or follow-up after the age of 3 years. The current involuntary movement affected all limbs with the right side being most affected. Each attack lasted for a few seconds to less than 3 minutes without loss of consciousness. Each episode was triggered by sudden body movement, anxiety, or deprived sleep. Frequency of attacks could reach up to 6 times a day. The patient claimed she could occasionally partially control the symptoms. Physical examination, biochemical tests, and brain imaging were unremarkable. Her brother was also affected by PKD. The attack was controlled by carbamazepine; a missed dose would usually lead to relapse. Family 3Patient 3 was a 14-year-old boy who presented in 2004 with chorea-like movement of the four limbs since the age of 18 months. Each attack lasted for about 15 to 20 seconds and there was no impaired consciousness. The frequency of attacks could reach up to 10 times a day. The attacks were triggered after running or waking up from sleep. A good clinical response was achieved with carbamazepine. The attacks recurred only after a missed dose. Physical examination, biochemical investigations, and brain imaging were unremarkable and he had normal development and intelligence. Five paternal family CASE REPORT

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Section: Discussionsupporting

confidence: 62%

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients

et al. 2016

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“…Mutations of PRRT2 have been reported recently as the cause of PKC, BFIE and ICCA [3,4,[19][20][21][22][23]. To date, mutations in PKC have been reported exclusively in Asians with c.649dupC mutation being a hot spot mutation.…”

Section: Discussionmentioning

confidence: 99%

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

Ishii¹,

Yasumoto²,

Ihara³

et al. 2013

Brain and Development

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“…In addition, Heron et al identified five different mutations in PRRT2 in 14 of 17 families affected by BIE and in five of six families affected by ICCA [5] and Ono et al found two mutations in PRRT2, c.649_650insC and c.748C>T, in all individuals with PKD and/or BIE [6]. Thereafter, several reports have shown that PRRT2 mutation will be one of the major genes relating to BIE, PKD, and ICCA [7][8][9][10][11][12][13][14][15][16][17][18][19][20]. However, we hypothesized that PRRT2 mutation may also be related to several phenotypes of infantile epilepsies other than BIE and/or PKD.…”

Section: Introductionmentioning

confidence: 99%

PRRT2 mutation in Japanese children with benign infantile epilepsy

Okumura

Shimojima

Abe

et al. 2013

Brain and Development

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Identification of a novel PRRT2 mutation in patients with paroxysmal kinesigenic dyskinesias and c.649dupC as a mutation hot-spot

Cited by 53 publications

References 3 publications

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients

A common PRRT2 mutation in familial paroxysmal kinesigenic dyskinesia in Hong Kong: a case series of 16 patients

Genetic analysis of PRRT2 for benign infantile epilepsy, infantile convulsions with choreoathetosis syndrome, and benign convulsions with mild gastroenteritis

PRRT2 mutation in Japanese children with benign infantile epilepsy

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