. 2012 Apr 6;90(4):708–714. doi: 10.1016/j.ajhg.2012.03.005

Table 1.

Clinical Characteristics of 14 Individuals Affected by KTS

	Family 1			Family 2			Family 3		Family 4					Family 5
	II-1	II-6	II-7	IV-1	IV-2	IV-4	V-1	V-3	V-4	V-5	V-6	V-7	V-8	V-12
Gender	female	female	male	female	male	male	male	female	female	male	female	female	male	male
Birth weight (grams)	3,500	3,500	3,500	3,250	3,250	3,500	2,500	2,400	2,300	3,140	2,800	3,500	3,800	3,500
Delivery^a	NVD	NVD	NVD	NVD	NVD	NVD	CS	CS	NVD	NVD	NVD	NVD	NVD	NVD
Current age (years)	6	24	16	15.5	16.5	13.5	14.5	16.5	deceased at age 2	16.5	19.5	15	3.5	4.5

Clinical characteristics

Age of first convulsion (months)	13	12	9	12	6.5	42	9	9	birth	10	9	9	9	11
Seizure intensity^b	+	+++	++	+	+++	+	+++	+	+++	++	+++	+	+	+++
Resistance to therapy^c	+	+++	++	+	+++	+	+++	+	+++	++	+++	+	+	+++
Amelogenesis imperfecta	yes	yes	yes	yes	yes	yes	yes	yes	N/A	yes	yes	yes	yes	yes
Intellectual impairment^d	+++	++++	+++	+++	+++	++	+++	++	N/A	+++	++++	++	+++	+++
Speech	no	no	no	no	no	mumbling	no	mumbling	N/A	no	no	mumbling	no	no
Ambulant	yes	no	yes	yes	yes	yes	no	yes	N/A	yes	no	yes	yes	yes

Laboratory evaluation

EEG^e	N	N/A	N	N/A	abnormal	abnormal	N/A	N/A	N/A	abnormal	N/A	N	abnormal	N
Brain MRI^f	abnormal	abnormal	abnormal	N/A	N	N/A	N/A	N/A	N/A	abnormal	N/A	N/A	N	N

The following abbreviations were used: NVD, normal vaginal delivery; CS, cesarean section; N/A, not available; EEG, electroencephalogram; N, normal; and MRI, magnetic resonance imaging.

All individuals were born at term.

Seizure intensity: +, occasional; ++, frequent; and +++, severe.

Therapy resistance: +, good response to treatment; ++, control by treatment; and +++, refractory.

Intellectual impairment: +, mild; ++, moderate; +++, severe; and ++++, profound.

An abnormal EEG revealed a pattern of slow, short epileptiform spikes and waves during light sleep and was normal thereafter.

An abnormal MRI revealed dilation of cerebellar sulci and third and lateral ventricles.