Juvenile myoclonic epilepsy of Janz: clinical observations in 60 patients

Canevini, Maria Paola; R, Mai; Caforio, Marco; Bertin, Christiane; Minotti, Lorella; Pontrelli, V.; Saltarelli, A.; Canger, R.

doi:10.1016/1059-1311(92)90039-4

Cited by 58 publications

(37 citation statements)

References 16 publications

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“…Future panel and exome analyses may enable further dissection of the heterogenic causes of JME. Thirdly, further clinical features that were not part of our study protocol have been described previously and should be included in future analyses [41]. Lastly, the number of EFHC1 variations found among our patients is relatively small.…”

Section: Discussionmentioning

confidence: 94%

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy

Podewils

Kowoll

Schroeder

et al. 2015

Epilepsy & Behavior

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Section: Discussionmentioning

confidence: 94%

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy

Podewils

Kowoll

Schroeder

et al. 2015

Epilepsy & Behavior

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“…90 % av pasientene har generaliserte tonisk-kloniske anfall (21 -23). Etter å ha tolket myokloniene som utslag av nervøsitet eller uro, er det gjerne et krampeanfall som bringer pasienten til lege eller sykehus (21,22) (5,21). Rundt 15 % får absenser i barneårene før det dukker opp andre anfallstyper (24).…”

Section: Generaliserte Tonisk-kloniske Anfall (Gtk)unclassified

“…Typisk for juvenil myoklonusepilepsi er at anfallstendensen er størst rett etter oppvåk-ning (21). Det gjelder for så vel myoklonier som generaliserte tonisk-kloniske anfall.…”

Section: Døgnvariasjonunclassified

“…40 % (27), og fokale patologiske endringer i EEG er rapportert å forekomme hos rundt 30 % (8 -55 %) (5,21,22,25). En slik fokalitet kan lett gi opphav til feil diagnose (26).…”

Section: Utredningunclassified

“…Klinisk nevrologisk undersøkelse og cerebral MR er normal (20,21). Er man usikker på diagnosen, saerlig ved opptreden av fokale trekk i anfallsutformingen eller i EEG, bør cerebral MR inkluderes i utredningen.…”

Section: Utredningunclassified

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Juvenil myoklonusepilepsi

Syvertsen¹,

Markhus²,

Selmer³

et al. 2012

Tidsskriftet

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Juvenile myoclonic epilepsy in chromosome 6p12-p11: Locus heterogeneity and recombinations

Liu

Delgado‐Escueta

Gee³

et al. 1996

Am. J. Med. Genet.

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We recently analyzed under homogeneity a large pedigree from Belize with classic juvenile myoclonic epilepsy (JME). After a genome wide search with 146 microsatellites, we obtained significant linkage between chromosome 6p markers, D6S257 and D6S272, and both convulsive and EEG traits of JME. Recombinations in two affected members defined a 40 cM JME region flanked by D6S313 and D6S258. In the present communication, we explored if the same chromosome 6p11 microsatellites also have a role in JME mixed with pyknoleptic absences. We allowed for heterogeneity during linkage analyses. We tested for heterogeneity by the admixture test and looked for more recombinations. D6S272, D6S466, D6S294, and D6S257 were significantly linked (Zmax > 3.5) to the clinical and EEG traits of 22 families, assuming autosomal dominant inheritance with 70% penetrance. Pairwise Zmax were 4.230 for D6S294 (θm = f at 0.133) and 4.442 for D6S466 (θm = f at 0.111). Admixture test (H2 vs. H1) was significant (P = 0.0234 for D6S294 and 0.0128 for D6S272) supporting the hypotheses of linkage with heterogeneity. Estimated proportion of linked families, α, was 0.50 (95% confidence interval 0.05–0.99) for D6S294 and D6S272. Multipoint analyses and recombinations in three new families narrowed the JME locus to a 7 cM interval flanked by D6S272 and D6S257. © 1996 Wiley‐Liss, Inc.

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Juvenile myoclonic epilepsy of Janz: clinical observations in 60 patients

Cited by 58 publications

References 16 publications

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy

Predictive value of EFHC1 variants for the long-term seizure outcome in juvenile myoclonic epilepsy

Juvenil myoklonusepilepsi

Juvenile myoclonic epilepsy in chromosome 6p12-p11: Locus heterogeneity and recombinations

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