Table 1.

Investigations implicating CNTNAP2 in neurological disorders

Study	Trait	Gene disruption
Vernes et al. 2008 [43]	SLI	None - association with common variants; candidate gene association study
Zweier et al. 2009 [45]	Mental retardation with seizures (resembling Pitt-Hopkins syndrome)	Homozygous deletion in a single sib pair; point mutation in a single proband
Alarcón et al. 2008 [57]	Autism; quantitative measure of age at first word'	None - association with common variants; positional mapping of chromosome 7 'linkage region
Verkerk et al. 2003 [58]	Gilles de la Tourette syndrome with obsessive compulsive disorder and mental retardation	Complex chromosome rearrangement in a single family
Friedman et al. 2008 [59]	Epilepsy and schizophrenia (one patient had autistic features and mental retardation)	Deletion in three unrelated individuals
Strauss et al. 2006 [60]	Cortical dysplasia, focal epilepsy, relative macrocephaly and diminished deep-tendon reflexes	Point mutation; homozygosity mapping in isolated population
Arking et al. 2008 [61]	Autism	None - association with common variants; genome-wide association
Bakkaloglu et al. 2008 [62]	Autism	Inversion - single patient; coding changes - mutation screen in patient cohort
Rossi et al. 2008 [63]	Autism and primary amenorrhea	Deletion - single patient
Poot et al. 2009 [65]	Autism	Complex chromosome rearrangement in a single individual
Elia et al. 2009 [66]	ADHD	Copy number variant - hemizygous deletion in a single proband
Terracciano et al. 2008 [80]	Openness to experience - the unconventional, emotionally and artistically sensitive; agreeableness	None - association with common variants; genome-wide association of personality tendency to be imaginative, creative, dimensions