Paroxysmal kinesigenic dyskinesia and infantile convulsions

Swoboda, Kathryn J.; Soong, Bing Wen; McKenna, Carolyn; Brunt, Ewout; Litt, M.; Bale, James F.; Ashizawa, Tetsuo; Bennett, Lynda; Bowcock, Anne M.; Roach, E. Steve; Gerson, D.; Matsuura, Toshinobu; Heydemann, Peter; Nespeca, Mark; Jankovic, Joseph; Leppert, M.; Ptáček, Louis J.

doi:10.1212/wnl.55.2.224

Cited by 124 publications

(104 citation statements)

References 27 publications

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“…7,10 Several reports also indicate that PKD and BFIC2 may be allelic disorders because these two diseases occurred in the same families and map to the same region on chromosome 16. 11 To date, it has been recognized that these two diseases are closely related, yet non-identical, because the main symptom of BFIC2 is convulsion and that of PKD is involuntary movement. 3 Results of our study strongly suggest that PKD and BFIC2 are genetically caused by identical mutations.…”

Section: Discussionmentioning

confidence: 99%

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

et al. 2012

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Paroxysmal kinesigenic dyskinesia (PKD (MIM128000)) is a neurological disorder characterized by recurrent attacks of involuntary movements. Benign familial infantile convulsion (BFIC) is also one of a neurological disorder characterized by clusters of epileptic seizures. The BFIC1 (MIM601764), BFIC2 (MIM605751) and BFIC4 (MIM612627) loci have been mapped to chromosome 19q, 16p and 1p, respectively, while BFIC3 (MIM607745) is caused by mutations in SCN2A on chromosome 2q24. Furthermore, patients with BFIC have been observed in a family concurrently with PKD. Both PKD and BFIC2 are heritable paroxysmal disorders and map to the same region on chromosome 16. Recently, the causative gene of PKD, the protein-rich transmembrane protein 2 (PRRT2), has been detected using whole-exome sequencing. We performed mutation analysis of PRRT2 by direct sequencing in 81 members of 17 families containing 15 PKD families and two BFIC families. Direct sequencing revealed that two mutations, c.649dupC and c.748C4T, were detected in all members of the PKD and BFIC families. Our results suggest that BFIC2 is caused by a truncated mutation that also causes PKD. Thus, PKD and BFIC2 are genetically identical and may cause convulsions and involuntary movements via a similar mechanism.

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Section: Discussionmentioning

confidence: 99%

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

et al. 2012

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“…Only a few families with infantile convulsions have been described where seizures occurred at later age in some relatives; most were families with infantile convulsions and paroxysmal dyskinesias. 8,13,15 Whether the patients in our family show another phenotypic expression of BFIC or are phenocopies has to be determined with genetic studies. In three of our families, the epilepsy was associated with other paroxysmal disorders: kinesigenic dyskinesias in two and familial hemiplegic migraine in another.…”

Section: Discussionmentioning

confidence: 99%

“…induced by sudden voluntary movements. [12][13][14][15] Many patients report variable sensations preceding an attack. The dyskinesias usually last a few seconds, during which consciousness is preserved, and are easily controlled by AEDs.…”

Section: Introductionmentioning

confidence: 99%

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Benign familial infantile convulsions: a clinical study of seven Dutch families

Callenbach

Coo²,

Vein³

et al. 2002

European Journal of Paediatric Neurology

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Benign familial infantile convulsions (BFIC) is a recently identified partial epilepsy syndrome with onset between 3 and 12 months of age. We describe the clinical characteristics and outcome of 43 patients with BFIC from six Dutch families and one Dutch-Canadian family and the encountered difficulties in classifying the syndrome. Four families had a pure BFIC phenotype; in two families BFIC was accompanied by paroxysmal kinesigenic dyskinesias; in one family BFIC was associated with later onset focal epilepsy in older generations. Onset of seizures was between 6 weeks and 10 months, and seizures remitted before the age of 3 years in all patients with BFIC. In all, 29 (67%) of the 43 patients had been treated with anti-epileptic drugs for a certain period of time.BFIC is often not recognized as (hereditary) epilepsy by the treating physician. Seizures often remit shortly after the start of anti-epileptic drugs but, because of the benign course of the syndrome and the spontaneous remission of seizures, patients with low seizure frequency do not necessarily have to be treated. If prescribed, anti-epileptic drugs can probably be withdrawn after 1 or 2 years of seizure freedom.

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“…Kopplungen von familiären PKD an Chromosom 16q11.2-q22.1 konnten in acht japanischen, einer afroamerikanischen und einer indischen Familie nachgewiesen werden [33][34][35][36]. Weitere Genloci werden angenommen, da nicht alle untersuchten Familien an 16q11.2-q22.1 gekoppelt sind [37].…”

Section: Genetische Befundeunclassified

Paroxysmale Dyskinesien

et al. 2007

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The paroxysmal dyskinesiasCase report and clinical update " Abstract Paroxysmal dyskinesias are a rare group of hyperkinetic movement disorders mainly characterized by their episodic nature. Neurological examination may be entirely normal between attacks. Three main types of paroxysmal dyskinesias can be distinguished based upon their precipitating events -(i) paroxysmal non-kinesiogenic dyskinesias (PNKD), (ii) paroxysmal kinesiogenic dyskinesias (PKD) and (iii) paroxysmal exercise-induced (exertion-induced) dyskinesias (PED). All three have to be clearly differentiated from non-epileptic psychogenic, non-epileptic organic and epileptic attack disorders. We describe a woman who suffered from paroxysmal kinesiogenic dyskinesia and elucidate the clinical characteristics and differential diagnosis of these paroxysmal disorders.

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Paroxysmal kinesigenic dyskinesia and infantile convulsions

Abstract: Identification and characterization of the PKD/infantile convulsions gene will provide new insight into the pathophysiology of this disorder, which spans the phenotypic spectrum between epilepsy and movement disorder.

Cited by 124 publications

References 27 publications

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Mutations in PRRT2 responsible for paroxysmal kinesigenic dyskinesias also cause benign familial infantile convulsions

Benign familial infantile convulsions: a clinical study of seven Dutch families

Paroxysmale Dyskinesien

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