Autism is a strong genetic disorder, with an estimated heritability greater than 90%. Nonetheless, its specific genetic aetiology remains largely unknown. Autism is associated with epilepsy in early childhood and epilepsy occurs in 10–30% of individuals with autism. Here we report the case of a woman affected by a severe epileptic disorder with an onset at 14 years old. She is affected by a cryptogenetic focal epilepsy with complex partial (psychomotor) and secondarily and has six children: two girls are healthy, a girl and two boys are affected by autism while one boygeneralized tonic-clonic seizures, which are drug resistant. The woman is married to a healthy man shows partial seizures. The three children with autism show moderate mental retardation and an EEG with no epileptiform alterations. The child with epileptic seizures shows an asymmetric EEG that is not necessarily pathological. In this family, no chromosomal rearrangements were detected by means of classical cytogenetic analyses. The presence of FRAXA alterations and of microdeletions of the 15q11-q13 chromosome region were also excluded. A genome-wide linkage analysis using microsatellite markers revealed several chromosome regions as possible susceptibility loci.

Combi, R., Redaelli, S., Beghi, M., Clerici, M., Cornaggia, C., & Dalpra', L. (2010). Clinical and genetic evaluation of a family showing both autism and epilepsy. BRAIN RESEARCH BULLETIN, 82(1-2), 25-28 [10.1016/j.brainresbull.2010.02.004].

Clinical and genetic evaluation of a family showing both autism and epilepsy

COMBI, ROMINA;REDAELLI, SERENA;BEGHI, MASSIMILIANO;CLERICI, MASSIMO;CORNAGGIA, CESARE MARIA;DALPRA', LEDA
2010

Abstract

Autism is a strong genetic disorder, with an estimated heritability greater than 90%. Nonetheless, its specific genetic aetiology remains largely unknown. Autism is associated with epilepsy in early childhood and epilepsy occurs in 10–30% of individuals with autism. Here we report the case of a woman affected by a severe epileptic disorder with an onset at 14 years old. She is affected by a cryptogenetic focal epilepsy with complex partial (psychomotor) and secondarily and has six children: two girls are healthy, a girl and two boys are affected by autism while one boygeneralized tonic-clonic seizures, which are drug resistant. The woman is married to a healthy man shows partial seizures. The three children with autism show moderate mental retardation and an EEG with no epileptiform alterations. The child with epileptic seizures shows an asymmetric EEG that is not necessarily pathological. In this family, no chromosomal rearrangements were detected by means of classical cytogenetic analyses. The presence of FRAXA alterations and of microdeletions of the 15q11-q13 chromosome region were also excluded. A genome-wide linkage analysis using microsatellite markers revealed several chromosome regions as possible susceptibility loci.
Articolo in rivista - Articolo scientifico
Scientifica
autism, epilepsy, genetics, susceptibility loci
English
Combi, R., Redaelli, S., Beghi, M., Clerici, M., Cornaggia, C., & Dalpra', L. (2010). Clinical and genetic evaluation of a family showing both autism and epilepsy. BRAIN RESEARCH BULLETIN, 82(1-2), 25-28 [10.1016/j.brainresbull.2010.02.004].
Combi, R; Redaelli, S; Beghi, M; Clerici, M; Cornaggia, C; Dalpra', L
File in questo prodotto:
Non ci sono file associati a questo prodotto.

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/10281/11628
Citazioni
  • Scopus 4
  • ???jsp.display-item.citation.isi??? 4
Social impact