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Publications (3)9.32 Total impact

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    ABSTRACT: Mutations in PRRT2 have been described in paroxysmal kinesigenic dyskinesia (PKD) and infantile convulsions with choreoathetosis (PKD with infantile seizures), and recently also in some families with benign familial infantile seizures (BFIS) alone. We analyzed PRRT2 in 49 families and three sporadic cases with BFIS only of Italian, German, Turkish, and Japanese origin and identified the previously described mutation c.649dupC in an unstable series of nine cytosines to occur in 39 of our families and one sporadic case (77% of index cases). Furthermore, three novel mutations were found in three other families, whereas 17% of our index cases did not show PRRT2 mutations, including a large family with late-onset BFIS and febrile seizures. Our study further establishes PRRT2 as the major gene for BFIS alone. Hum Mutat 33:1439-1443, 2012. © 2012 Wiley Periodicals, Inc.
    Human Mutation 05/2012; 33(10):1439-43. · 5.21 Impact Factor
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    ABSTRACT: Benign familial infantile convulsions (BFIC) is a form of idiopathic epilepsy. It is characterized by clusters of afebrile seizures occurring around the sixth month of life. The disease has a benign course with a normal development and rare seizures in adulthood. Previous linkage analyses defined three susceptibility loci on chromosomes 19q12-q13.11, 16p12-q12, and 2q23-31. However, a responsible gene has not been identified. We studied linkage in 16 further BFIC families. We collected 16 BFIC families, without an additional paroxysmal movement disorder, of German, Turkish, or Japanese origin with two to eight affected individuals. Standard two-point linkage analysis was performed. The clinical picture included a large variety of seizure semiologies ranging from paleness and cyanosis with altered consciousness to generalized tonic-clonic seizures. Interictal EEGs showed focal epileptiform discharges in six patients, and three ictal EEGs in three distinct patients revealed a focal seizure onset in different brain regions. In all analyzed families, we found no evidence for linkage to the BFIC loci on chromosomes 19q and 2q, as well as to the known loci for benign familial neonatal convulsions on chromosomes 8q and 20q. In 14 of the families, the chromosome 16 locus could be confirmed with a cumulative maximum two-point lod score of 6.1 at marker D16S411, and the known region for BFIC could be narrowed to 22.5 Mbp between markers D16S690 and D16S3136. Our data confirm the importance of the chromosome 16 locus for BFIC and may narrow the relevant interval.
    Epilepsia 07/2004; 45(6):601-9. · 3.91 Impact Factor
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    ABSTRACT: Hintergrund1987 berichtete Watanabe erstmals ber eine in 50% der Flle familir auftretende gutartige Epilepsie mit komplexen Partialanfllen bei Suglingen und Kleinkindern (BPEI). Die spter von Vigevano beschriebenen Familien wiesen alle von Watanabe definierten Kriterien auf, zeigten jedoch einen strikt autosomal-dominanten Erbgang und eine Kopplung auf Chromosom 19q. In ihrem neuesten Vorschlag fr ein Diagnoseschema akzeptiert die ILAE die beiden Syndrome als "benign-non familial/autosomal dominant-infantile seizures".Methode und ErgebnisseMit Hilfe einer multizentrischen Datenbank wurden 24 Patienten mit BPEI identifiziert. In 2 groen betroffenen Familien wurde die genetische Kopplung auf Chromosom 19q analysiert. Alle Patienten erfllten die von Watanabe aufgestellten klinischen Kriterien, das interiktale EEG bot jedoch eine hhere Rate an Aufflligkeiten als bisher beschrieben. 14 der 24 Patienten hatten eine positive Familienanamnese fr benigne Epilepsien, in 2 Familien ber 3 Generationen.SchlussfolgerungDie benignen NF/AD infantile seizures sind 2 hchstwahrscheinlich genetisch distinkte, klinisch aber sehr nah verwandte Epilepsiesyndrome mit gutartigem Verlauf. Das Spektrum der Watanabe-Epilepsie ist weiter als initial definiert; ein interiktal pathologisches EEG schliet die Diagnose dieses gutartigen Epilepsiesyndroms nicht aus.BackgroundFor the first time in 1987 Watanabe reported on a benign form of epilepsy with complex partial seizures (BPEI) in infants and toddlers that is familial in 50% of cases. The families later described by Vigevano met all criteria defined by Watanabe but exhibited a strictly autosomal dominant inheritance and link to chromosome 19q. In its newest proposal on a diagram for diagnosis, the ILAE accepted both syndromes as "benign nonfamilial/autosomal dominant infantile seizures."Methods and resultsA multicenter data bank was used to identify 24 patients with BPEI. The genetic link to chromosome 19q was analyzed in two large families afflicted with BPEI. All patients fulfilled the clinical criteria established by Watanabe. However, the interictal EEG exhibited a higher rate of conspicuous events than previously described. Of the 24 patients, 14 had a positive family history of benign epilepsies among two families spanning three generations.ConclusionBenign nonfamilial and autosomal dominant infantile seizures are most likely two genetically distinct, but clinically closely related epileptic syndromes with a benign course. The spectrum of Watanabe's epilepsy is broader than initially defined. A pathological interictal EEG does not exclude the diagnosis of this benign epileptic syndrome.
    Monatsschrift Kinderheilkunde 12/2003; 152(1):54-61. · 0.19 Impact Factor