Trisomy 12p and epilepsy with myoclonic absences

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M Elia1, S A Musumeci, R Ferri

  • 1Department of Neurology, Oasi Institute for Research on Mental Retardation and Brain Aging (IRCCS), Troina (EN), Italy. melia@oasi.en.it

Brain & Development
|April 17, 1998
PubMed

Insights

Trisomy 12p syndrome can be associated with myoclonic absences, a type of seizure observed in a young patient. This finding suggests a potential link between chromosomal abnormalities and specific seizure types.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Trisomy 12p syndrome is a rare chromosomal disorder.
  • Myoclonic absences are a specific type of epileptic seizure characterized by brief lapses of awareness and myoclonic jerks.

Observation:

  • A 6-year-old female with trisomy 12p syndrome presented with typical myoclonic absences.
  • Clinical and electroencephalogram (EEG) data confirmed the seizure type.

Findings:

  • The patient's presentation suggests a correlation between trisomy 12p syndrome and myoclonic absences.
  • This case adds to a small body of literature suggesting chromosomal abnormalities may cause specific seizure phenotypes.

Implications:

  • Myoclonic absences may be a direct or indirect consequence of chromosomal disorders like trisomy 12p.
  • Further research into chromosomal abnormalities and their neurological manifestations is warranted.

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