Table 2.

Intra-familial genotype-phenotype comparison.

	Family members
	VARIANT	I-2†	II-1‡	II-3‡	II-4‡	III-7	III-8	III-9	III-10	III-13‡
Genotypes	rs17164451 c.485+65G>C	G/C	G/C	G/C	G/C	G/G	G/G	G/C	G/C	G/C
	rs2027950 c.989+63C>G	C/G	G/G	G/G	G/G	G/G	G/G	G/G	G/G	G/G
	rs11542682 c.1980A>G p.Val660 = (HGMD MUT CM105502)	A/G	A/G	A/G	A/G	A/A	A/A	A/G	A/G	A/G
	rs2304689 c.205-36A>G	A/G	A/G	A/G	A/G	A/A	A/G	A/G	A/A	A/G
	rs11552377 c.358G>A p.Val120Ile (HGMD CM105503)	G/A	G/G	G/G	G/G	G/G	G/G	G/G	G/G	G/G
	rs55967204 c.745+98G>C	G/C	G/G	G/G	G/G	G/G	G/G	G/G	G/G	G/G
	rs2289367 c.915G>A p.Thr305	G/A	G/A	G/A	G/A	G/G	G/A	G/A	G/G	G/A
	rs2289369 c.915+119C>T	C/T	C/T	C/T	C/T	C/C	C/T	C/T	C/C	C/T
	IVS10-1G>A	G/A	G/A	G/A	G/A	G/G	G/A	G/A	G/G	G/A
Phenotypes	Sex	F	M	M	F	F	F	F	F	F
	Age	84	60	58	48	34	32	31	29	30
	Age onset/diagnosis	64	60	50	48					30
	Number of lesions	4	>7	4	5					3
	Lesions localization	Pons Right parietal lobe	Brainstem cerebellar hemispheres	Brainstem	Brainstem, cerebral hemispheres	Negative MRI	Negative MRI	Negative MRI	Negative MRI	Posterior limb of the right internal capsule Left temporal lobe
	Symptoms	Epileptic seizures	Global transient amnesia	Asymptomatic	Headaches, Right hemiparesis, Hemi hyperesthesia					Asymptomatic

The table is divided in two sections. The upper shows allelic distribution among then family's members. The lower summarizes their main phenotypical features.

^†Indicates the proband.

^‡Indicates the affected within the family.

Heterogeneity in lesions localization and in symptomatology are reported although equivalence of the genotypes.