Table 1.

Comparison of Individuals with GOSR2 (c.430G>T) Mutation

Case	Sex	Origin	Known Consanguinity	Age (Years)	First Symptoms	Other Seizuresa	Motor	Cognition	Skeletal Abnormalities	EEG	CK (Normal < 170)
1	F	Australian	Yes	32b	ataxia, age 2; tremor, age 7; absences, age 7–8; obvious myoclonus, age 8	drop attacks, age 13; convulsive seizures, age 13	areflexia, age 2; wheelchair, age 14; bedfast age, 22	normal until ∼age 25; mmemory difficulties later	scoliosis, pes cavus	generalized spike-wave, posterior emphasis photosensitive	570–800
2	F	German	No	17	ataxia, age 1–2; tremor, age 4; myoclonus, age 6	drop attacks, age 14; myoclonic status	areflexia, age 2; wheelchair, age 15	normal	scoliosis	generalized spike-wave, posterior emphasis photosensitive	150–580
3	F	Dutch	No	32	ataxia, age 3; myoclonus, age 6	convulsive seizures, age 14	areflexia, age 3; wheelchair, age 13	normal	scoliosis, syndactly	generalized spike-wave photosensitive	141–267
4	F	Dutch	No	30	ataxia, age 2c; fine motor problems, age 5; worsening ataxia, age 7; absences, ∼age 6; myoclonus, age 10	tonic-clonic, age 12; drop attacks, age 14	areflexia, age 7; wheelchair, age 24	normal until ∼ age 25; memory difficulties later	scoliosis, syndactly	generalized spike-wave, posterior emphasis photosensitive	700–900
5a	F	Dutch	No	24b	ataxia, age 2-3; myoclonus, age 6	tonic-clonic seizures, age 21	areflexia, age 6; wheelchair, age 14	normal	scoliosis	generalized discharges photosensitive	300–668
5b	M	Dutch	No	28	ataxia, age 2–3; myoclonus, age 5–6	tonic-clonic seizures, age 24; absences; tonic seizures	areflexia, age 3; wheelchair, age 13	normal	scoliosis	generalized discharges photosensitive	174–213

^aThe distinction between true tonic-clonic seizures and myoclonic status could not be made in some cases.

^bDeceased.

^cInitially regarded as an acute ataxia, which improved.