Does epilepsy in multiplex autism pedigrees define a different subgroup in terms of clinical characteristics and genetic risk?

Table 5 AGRE families with two children with ASD and comorbid epilepsy (n = 11): clinical status, type of seizures and risk factors in all siblings ^a

Family	Gender	Autism diagnosis	Type of seizure^b	Risk factor of ASD and/or epilepsy
AU0025	M	Autism	Partial	Mitochondrial disorder, mild tonsillectomy (premature puberty)
	M	Autism	Multiple	No risk reported
	F	Unaffected	No seizure	Unknown
AU0051	M	Autism	Absence	No risk reported
	M	Autism	Absence	Agenesis of corpus callosum
AU0123	F	Autism	Partial	Prematurity^c/pre- or perinatal insult
	M	Autism	Multiple	Unknown
	F	Unaffected	No seizure	Unknown
AU0176	F	Autism	Partial	No risk reported
	M	Autism	Partial	No risk reported
	M	Unaffected	No seizure	Unknown
	F	Unaffected	No seizure	Unknown
AU0275	M	Autism	Multiple	No risk reported
	M	Autism	Not indicated	Unknown
	F	Unaffected	No seizure	Unknown
	F	Unaffected	No seizure	Unknown
AU0461	M	Autism	Generalized	No risk reported
	M	Autism	Generalized	Unknown
AU0548	F	Autism	Absence	No risk reported
	M	Autism	Not indicated	No risk reported
	F	Unaffected	No seizure	Unknown
AU0731	M	Autism	Generalized	Prematurity^c/pre- or perinatal insult
	M	PDD-NOS	Not indicated	Unknown
AU0765	M	Autism	Absence	Unknown
	F	PDD-NOS	Not indicated	t(2;9)(p13;q34.3)
	M	Unaffected	No seizure	Unknown
AU0922	M	Autism	Partial	No risk reported
	F	Autism	Partial	Unknown
AU1208	M	Autism	Multiple	15q11–13 duplication
	M	Autism	Absence	Unknown

^aFrom the 154 families included in the co-segregation analysis, the families with ASD children and without epilepsy are not detailed in this table; ^bnot indicated means that the type of seizures was not given in the AGRE database, although the patient exhibits epilepsy; ^cdefined as delivery before 35 weeks of gestational age for single births or before 33 weeks of gestational age for twin births. AGRE, Autism Genetic Resource Exchange; ASD, autism spectrum disorders; PDD-NOS, pervasive developmental disorder-not otherwise specified.

ISSN: 2040-2392