Table 1.

Cases with the c.436G>A mutation reported in literature.

Author	Age at onset	Origin	Myoclonus	Type of seizures	EEG	Sex	Clinical status at time of study	Seizure frequency	Age at the time of study
Lanoiselée	19	Turkish	−	GTCSs	Slow BG	W	Cognitive impairment	1/month	24
Baykan	19	Turkish	+	GTCSs	Slow BG, generalized spike–waves and polyspike–waves	M	Mild myoclonus, GTCSs, moderate cognitive impairment	1 to 4/year	32
Baykan	21	Turkish	+	GTCSs	Slow BG, generalized spike–waves and polyspike–waves	M	Mild myoclonus, GTCSs, moderate cognitive impairment	1 to 4/year	29
Baykan	17	Turkish	+	GTCSs	Slow BG, generalized spike–waves and polyspike–waves	M	Moderate cognitive impairment	1/year	28
Baykan	21	Turkish	+	GTCSs	Slow BG, generalized spike–waves and polyspike–waves	M	Minor myoclonus, GTCSs, slight cognitive decline	< 1/year	25
Salar	30	Turkish	−	GTCSs	Slow BG, diffuse spikes and waves	M	Dementia, extrapyramidal signs		48
Couarch	13	Turkish	+	GTCSs, absence	Slow BG, diffuse and FT epileptic abnormalities, PS	W	Severe intellectual impairment, ataxia disabling myoclonus		27
Couarch	13	Turkish	+			M
Franceschetti	15	Italian	+	Myoclonus		M	Mild cognitive and motor impairment, preserved daily living activities, social interaction		2
Franceschetti	18	Italian		GTCSs		M	Mild cognitive and motor impairment, preserved daily living activities, social interaction		28
Franceschetti	13	Italian		Absence		W	Mild cognitive and motor impairment, preserved daily living activities, social interaction

GTCSs: generalized tonic–clonic seizures.

PS: photosensitivity.

BG: background.