Figure 1.

Genetic variants and syndromes associated with ASD and epilepsy

Genetic variant or syndrome	Relevant genes	Epilepsy features	Developmental features	Potential treatments
2p16.3 deletion	NRXN1	Early onset, generalized, severe	Profound ID, ADHD
7q35 deletion (cortical dysplasia-focal epilepsy)	CNTNAP2	Both focal and generalized epilepsy	Profound ID Profound language impairment	Oxytocin
15q11.2–13.1 duplication	UBE3A, GABAA receptors	Varied: Generalized and partial, multi-focal, infantile spasms, possibly resistant to typical benzodiazepenes	Hypotonia Comorbid ID and ASD Profound language impairment Excessive beta band activity	Benzodiazepenes may be less effective
18q12.1 duplication or deletion	DTNA Cadherin superfamily genes	Focal and generalized	ID, language delay, deletions associated with motor delay
22q13.3 deletion	SHANK3	Varied: generalized, focal, absence	Hypotonia Comorbid ID and ASD Profound language impairment	IGF-1
Fragile X syndrome	FMR1	Focal epilepsy, often with centrotemporal spikes	Comorbid ID, with ASD severity related to IQ, anxiety, sleep impairment	MGluR5 antagonists, NMDA antagonists (Memantine), GABA modulators (riluzole, acamprosate)
MECP2-related disorders (Rett syndrome)	MECP2	Generalized and multifocal, EEG shows background slowing (delta power), loss of normal sleep architecture	Microcephaly, regression, Profound ID, stereotypic hand movements, gait dyspraxia, hypotonia	IGF-1, Valproate
PTEN related disorders	PTEN	Both focal and generalized	Macrocephaly, comorbid ID	IGF-1, mTORc inhibitors
Tuberous Sclerosis Complex	TSC 1/2	Infantile Spasms, Generalized and multifocal epilepsy	Comorbid ID, non-verbal IQ decline in early infancy, anxiety and ADHD	mTORc inhibitors, Vigabatrin