<i>PRRT2</i>
            mutations

Méneret, Aurélie; Grabli, David; Depienne, Christel; Gaudebout, Cécile; Picard, Fabienne; Dürr, Alexandra; Lagroua, Isabelle; Bouteiller, Delphine; Mignot, Cyril; Doummar, Diane; Anheim, Mathieu; Tranchant, C.; Burbaud, Pierre; Jedynak, C. P.; Gras, Domitille; Steschenko, Dominique; Devos, David; Villemeur, Thierry Billette de; Vidailhet, Marie; Brice, Alexis; Roze, Emmanuel

doi:10.1212/wnl.0b013e31825f06c3

Cited by 98 publications

(99 citation statements)

References 12 publications

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“…The percentages of sporadic cases found to be PRRT2 mutation positive are generally lower, with mutations found in 27–50% of PKD patients with no family history23 24 30 35 and 29–100% of cases of sporadic benign infantile seizures 25 29 39 46 48. The generally high frequency of mutations in familial cases of PKD and BFIE indicates that PRRT2 mutations are the most common cause of both disorders.…”

Section: Resultsmentioning

confidence: 99%

“…Mutations in PRRT2 account for between 40–100% of familial cases of BFIE,25 29 39 46 48 33–100% of familial cases of ICCA,22 24 28 30 34 35 39 46 48 and 62–100% of familial cases of PKD4 22–24 28 30 34 35 in the various cohorts of patients that have been studied. The percentages of sporadic cases found to be PRRT2 mutation positive are generally lower, with mutations found in 27–50% of PKD patients with no family history23 24 30 35 and 29–100% of cases of sporadic benign infantile seizures 25 29 39 46 48.…”

Section: Resultsmentioning

confidence: 99%

See 1 more Smart Citation

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

Heron

Dibbens

2013

J Med Genet

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Mutations in the gene PRRT2 encoding proline-rich transmembrane protein 2 have recently been identified as the cause of three clinical entities: benign familial infantile epilepsy (BFIE), infantile convulsions with choreoathetosis (ICCA) syndrome, and paroxysmal kinesigenic dyskinesia (PKD). Patients with ICCA have both BFIE and PKD and families with ICCA may contain individuals who exhibit all three phenotypes. These three phenotypes were all mapped by linkage analyses to the pericentromeric region of chromosome 16, and were hypothesised to have the same genetic basis due to the co-occurrence of the disorders in some families. Despite considerable effort, the gene or genes for BFIE, ICCA, and PKD were not identified for many years after the linkage region was identified. Mutations in the gene PRRT2 were identified in several Chinese families with PKD, suggesting that the gene may also be responsible for ICCA and BFIE in families linked to the chromosome 16 locus. This was demonstrated to be the case, with the majority of families with ICCA and BFIE found to have PRRT2 mutations. The vast majority of these mutations are truncating and are predicted to lead to haploinsufficiency. PRRT2 is a largely uncharacterised protein. It is expressed in the brain and has been demonstrated to interact with SNAP-25, a component of the molecular machinery involved in the release of neurotransmitters at the presynaptic membrane. Therefore, the PRRT2 protein may play a role in this process. However, the molecular mechanisms underlying the remarkable pleiotropy associated with PRRT2 mutations have still to be determined.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

Heron

Dibbens

2013

J Med Genet

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“…The underlying pathophysiological mechanisms are still not fully understood. Recently PRRT2 (proline-rich transmembrane protein 2) gene has been identified as a causative gene of PKD [5,6], but the exact role of this mutation is unknown [7,8]. Previous studies suggested abnormal ictal and interictal regional cerebral blood flow (CBF) in the basal ganglia, thalamus, sensorimotor cortex and premotor cortex in PKD [9][10][11][12][13].…”

Section: Introductionmentioning

confidence: 99%

Increased interhemispheric resting-state functional connectivity in paroxysmal kinesigenic dyskinesia: A resting-state fMRI study

Ren¹,

Lei²,

Yang³

et al. 2015

Journal of the Neurological Sciences

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“…PRRT2 mutation is the major cause of PKD in Chinese, Koreans, Japanese, and Europeans [7][8][9][10][11] and accounts for 33% to 46% of sporadic and 80% to 100% of familial forms of PKD. 12 Heterozygous c.649dupC is a mutation hotspot of which the mutation detection rate for Chinese can be as high as 62%.…”

Section: Discussionmentioning

confidence: 99%

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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PRRT2 mutations

Abstract: Mutations in PRRT2 are a major cause of PKD in familial and sporadic cases in the European population.

Cited by 98 publications

References 12 publications

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

Increased interhemispheric resting-state functional connectivity in paroxysmal kinesigenic dyskinesia: A resting-state fMRI study

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

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