Table 1.

Clinical description of the affected individuals of the family

Clinical phenotype	Clinical observation	Patient
		Vl:1	VI:2	VI:5	VI:6	VI:7	VI:10	VI:11
Age	Present age	20 years	24 years	22 years	18 years	14 years	16 years	12 years
Epilepsy	Age of onset	2.5 years	3 years	1.2 years	2.5 years	2 years	1.8 years	3.5 years
	Types of seizures	Focal onset	Focal onset	Generalized tonic clonic	Focal onset	Focal onset	Focal onset aware	Generalized tonic clonic
	Treatment	Carbamazepine and lamotrigine	Carbamazepine and lamotrigine	Valproic acid and clonazepam	Carbamazepine and lamotrigine	Valproic acid, levetiracetam, clonazepam	Levetiracetam and carbamazepine	Carbamazepine and valproic acid
	Outcome	No	No	No	No	Under minor control	No	No
Language impairment	Difficulty in receptive and expressive language	Yes	Yes	Yes	Yes	Yes	Yes	Yes
	Type of language impairment	SLI	SLI	SLI	SLI	SLI	SLI	SLI
Obesity	Age of onset	3.5 years	4 years	2.9 years	3 years	3.5 years	4 years	4.5 years
	BMI (kg/m2/percentile)	37 kg/m2	34.4 kg/m2	42 kg/m2	98th centile	96th centile	99th centile	95th centile
Observations at Birth	Delivery	Normal	Normal	Normal	Normal	Normal	Normal	Normal
	Apgar scores	>7	>7	>7	>7	>7	>7	>7
Developmental milestones	Crawling	12–15 months	14–16 months	12–15 months	13–16 months	12–15 months	14–16 months	14–16 months
	Walking	18–22 months	20–24 months	18–24 months	18–24 months	20–24 months	20–24 months	20–24 months
	Talking	3—4 years	3–4 years	3–4 years	3–4 years	2.5–3 years	3–4 years	3–4 years