Table 1.

Clinical and genetic findings of the previously reported and present cases with polymicrogyria and pachygyria

	Patient 1	Patient 2	Passemard et al. [2009]	Ariani et al. [2012]	Hu et al. [2014]	Nakamura et al. [2015]	Letard et al. [2018]	Letard et al. [2018]
Sex	F	M	M	M	NA	M	M	M
Age, years	9	10	20	29	23	8	4	7
HC at birth, cm	32	31	NA	NA	NA	29.5	NA	NA
HC at examination age, SD	−6.01	−5.88	−5	−7.8	NA	−7.6	−10.8	−5.6
Intellecual disability	Moderate	Severe	Mild	Moderate-severe	Moderate	Severe	NA	NA
Age of epilepsy onset, years	7	5	14	−	4	4	−	6
Type of epilepsy	Secondary generalized tonic-clonic seizures	Focal motor epilepsy	Generalized tonic-clonic seizures	−	Focal and generalized epilepsy	Tonic seizures	−	−
Additional neurological findings	−	−	−	−	Fine motor problems and required surgery for strabismus	Increased muscle tone and mild spasticity in the arms and severe spasticity in the legs	Spastic tetraplegia	−
Dysmorphic features	Narrow, sloping forehead	Synophrys Narrow, sloping forehead	Narrow bitemporal distance, sloping forehead, oxycephaly	Sloping forehead, long face, thick lips	NA	−	NA	NA
MRI findings	Symmetrical ventriculomegaly, thinning of the corpus callosum, simplified gyral pattern located in the left frontotemporal region, and polymicrogyria located in the right frontotemporal region	Symmetrical ventriculomegaly, simplified gyral pattern located in both hemispheres and pachygyria	Extensive unilateral perisylvian polymicrogyria from the frontal pole to the occipital pole; contralateral simplified frontal and occipital gyral pattern	Global reduction in brain size, thin brain stem, normal corpus callosum, temporal pachygyria	Reduced gyration, parietal polymicrogyria and a myelination defect	Frontal-dominant pachygyria with enlarged lateral ventricles and a slightly thickened corpus callosum	Thick frontal gyri, gyral simplification, thick corpus callosum, extensive bilateral posterior polymicrogyria	Gyral simplification, polymicrogyria in frontoinsular region
ASPM mutation	Homozygous c.5219_5225delGAGGATA (p.Arg1740Thrfs*7)	Homozygous c.7792C>T (p.Gln2598*)	Homozygous c.9507delG (p.lle3170Leufs*9)	Compound heterozygous c.3796 G>T (p.Glul266*); c.7815_7816del (p.Glu2605Aspfs*31)	Compound heterozygous c.8227C> Τ (p. Arg2743*); c.7772_7775delAAAA (p.Lys2591Argfs*24)	Compound heterozygous c.3055C>T (p.Argl019*);c.6750delT (p.Phe2250Leufs*10)	Homozygous c.8702delA (p.His2901Leufs*37)	Homozygous c.7744delA (p.lle2582Serfs*34)
Mutation location	Exon 18	Exon 18	Exon 23	Exon 16 and 18	Exon 18 and 18	Exon 11 and 18	Exon 18	Exon 18

MRI, magnetic resonance imaging; HC, head circumference; NA;, not available; SD, standard deviation.