Identification and functional characterization of two novel mutations in KCNJ10 and PI4KB in SeSAME syndrome without electrolyte imbalance

Table 1 Clinical information of the affected individuals in the pedigree

Clinical information
Features	IV.2	IV.3	IV.4	IV.5	V.1	V.2
Age	30	28	25	22	12	9
Gender	Female	Female	Male	Male	Male	Female
Developmental delay	++	++	++	++	++	++
Seizures	GTCS	GTCS	GTCS	GTCS	GTCS	GTCS
Ataxia	++	++	++	++	++	++
Nystagmus	Upgaze nystagmus	No	No	Horizontal gaze evoked	No	No
Incoordination	++	++	++	++	++	++
Muscle tone	Increased (spastic type)	Increased (spastic type)	Increased (spastic type)	Increased (spastic type)	Increased (spastic type)	Increased (spastic type)
DTRs	Exaggerated	Exaggerated	Exaggerated	Exaggerated	Exaggerated	Exaggerated
Plantar	Extensor	Extensor	Extensor	Extensor	Extensor	Extensor
Irritability	+	+	+	+	+	+
Stereotypes	−	−	+	−	+	−
Psychosis	+	−	−	−	−	−
Hyperactivity	−	−	+	−	+	+
Speech	Dysarthric (scanning + spastic)	Dysarthric (scanning + spastic)	Dysarthric (scanning + spastic)	Dysarthric (scanning + spastic)	No speech	No speech
Gait	Unable to walk	Unable to walk	Unable to walk	Unable to walk	Walks with support	Walks with support
Audiometry	Mild SNHL	Mild SNHL	Severe SNHL	Severe SNHL	Moderate SNHL	Moderate SNHL
IQ	Not done	Not done	Not done	Not done	Profound mental retardation^a	Profound mental retardation^a

^aIQ is measured using Vineland Social Maturity Scale (VSMS) and found to be < 20

ISSN: 1479-7364