Mild generalized epilepsy and developmental disorder associated with large inv dup(15)

Rosanna Chifari, Renzo Guerrini, Mauro Pierluigi, Simona Cavani, Vincenzo Sgrò, Maurizio Elia, Raffaele Canger, Maria Paola Canevini

Research output: Contribution to journalArticle

Abstract

Purpose: Several studies attempted to clarify the genotype-phenotype correlations in patients with inverted duplication of chromosome 15 [inv dup(15)], which is usually characterized by severe mental retardation and epilepsy in individuals with large duplications including the Prader-Willi/Angelman region. We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset epilepsy. This report may help to define the milder spectrum of the syndrome. Methods: A 25-year-old girl with mild mental retardation had a 6-year history of absence seizures, with occasional head drop. Interictal EEG revealed diffuse spike-wave complexes. Epilepsy was well controlled by a combination of lamotrigine (LTG) and valproate (VPA). The other patient, a 27-year-old man with mild mental retardation, had a 5-year history of rare generalized tonic-clonic seizure during sleep, and frequent episodes of unresponsiveness, which appeared to be atypical absence seizures on video-EEG recordings. A combination of VPA and LTG led to a remarkable improvement, although no complete control. Results: Molecular analysis revealed a large inv dup15 in both patients. Conclusions: The discrepancy between the mild phenotype and the severe chromosomal abnormality detected in these two patients further supports the notion that the site of breakpoint might be contributory to the inv dup(15) phenotype. Inv dup(15) should be considered in atypical cases of generalized epilepsy of adult onset without clear-cut etiology.

Original languageEnglish
Pages (from-to)1096-1100
Number of pages5
JournalEpilepsia
Volume43
Issue number9
DOIs
Publication statusPublished - Sep 2002

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Chromosomes, Human, Pair 15
Generalized Epilepsy
Intellectual Disability
Absence Epilepsy
Epilepsy
Valproic Acid
Phenotype
Electroencephalography
Video Recording
Genetic Association Studies
Chromosome Aberrations
Sleep
Seizures
Head
Isodicentric Chromosome 15 Syndrome

Keywords

  • Absences
  • Chromosomal abnormalities
  • Epilepsy
  • Genetics

ASJC Scopus subject areas

  • Clinical Neurology
  • Neuroscience(all)

Cite this

Mild generalized epilepsy and developmental disorder associated with large inv dup(15). / Chifari, Rosanna; Guerrini, Renzo; Pierluigi, Mauro; Cavani, Simona; Sgrò, Vincenzo; Elia, Maurizio; Canger, Raffaele; Canevini, Maria Paola.

In: Epilepsia, Vol. 43, No. 9, 09.2002, p. 1096-1100.

Research output: Contribution to journalArticle

Chifari, R, Guerrini, R, Pierluigi, M, Cavani, S, Sgrò, V, Elia, M, Canger, R & Canevini, MP 2002, 'Mild generalized epilepsy and developmental disorder associated with large inv dup(15)', Epilepsia, vol. 43, no. 9, pp. 1096-1100. https://doi.org/10.1046/j.1528-1157.2002.34101.x
Chifari, Rosanna ; Guerrini, Renzo ; Pierluigi, Mauro ; Cavani, Simona ; Sgrò, Vincenzo ; Elia, Maurizio ; Canger, Raffaele ; Canevini, Maria Paola. / Mild generalized epilepsy and developmental disorder associated with large inv dup(15). In: Epilepsia. 2002 ; Vol. 43, No. 9. pp. 1096-1100.
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AU - Guerrini, Renzo

AU - Pierluigi, Mauro

AU - Cavani, Simona

AU - Sgrò, Vincenzo

AU - Elia, Maurizio

AU - Canger, Raffaele

AU - Canevini, Maria Paola

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AB - Purpose: Several studies attempted to clarify the genotype-phenotype correlations in patients with inverted duplication of chromosome 15 [inv dup(15)], which is usually characterized by severe mental retardation and epilepsy in individuals with large duplications including the Prader-Willi/Angelman region. We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset epilepsy. This report may help to define the milder spectrum of the syndrome. Methods: A 25-year-old girl with mild mental retardation had a 6-year history of absence seizures, with occasional head drop. Interictal EEG revealed diffuse spike-wave complexes. Epilepsy was well controlled by a combination of lamotrigine (LTG) and valproate (VPA). The other patient, a 27-year-old man with mild mental retardation, had a 5-year history of rare generalized tonic-clonic seizure during sleep, and frequent episodes of unresponsiveness, which appeared to be atypical absence seizures on video-EEG recordings. A combination of VPA and LTG led to a remarkable improvement, although no complete control. Results: Molecular analysis revealed a large inv dup15 in both patients. Conclusions: The discrepancy between the mild phenotype and the severe chromosomal abnormality detected in these two patients further supports the notion that the site of breakpoint might be contributory to the inv dup(15) phenotype. Inv dup(15) should be considered in atypical cases of generalized epilepsy of adult onset without clear-cut etiology.

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