Table 1.

Simplified clinical findings and course of disease in patients with UGDH mutations from families F1 to F10.

Family	Patient	Gender, age at last follow-up	Main phenotype	Age at seizure onset	Epilepsy, seizure types	Drug sensitivity	Motor development at last follow-up	Intellectual disability	Speech	Swallowing/ feeding difficulties	Hypotonia
F1	II:4	F, 13 yrs	IDEE	9 mths	Epileptic spasms	Resistant	Absence	Severe	Absence	Yes, open mouth	Yes
F1	II:6	M, 5 yrs	IDEE	15 mths	Epileptic spasms	Resistant	Absence	Severe	Absence	Yes, open mouth drooling	Yes
F1	II:7	M, 4 yrs	IDEE	6 mths	Epileptic spasms	Resistant	Absence	Severe	Absence	Yes, open mouth drooling	Yes
F2	II:1	F, 23 mths	IDEE	5 mths	Epileptic spasms reported back arching directyl after birth	Resistant	Absence	Severe	ND	ND	Yes
F3	II:1	M, 6 yrsa	IDEE	8 wks	Epilepsy with focal seizures, myoclonic jerks, epileptic spasms, status epilepticus	Resistant	Absence	Severe	Absence	Yes, g-tube	Yes
F3	II:2	M, 2 yrs	IDEE	4 mths	Epileptic spasms	Resistant	Absence	Severe	Absence	Yes, g-tube	Yes
F4	II:1	M, 5 yrs	IDEE	4 mths	Epileptic spasms	ND	Absence	Severe	Absence	Yes, g-tube	Yes
F5	II:1	F, 14 years	ID, MD	3 yrs	Seizures in the setting of fever	Seizure-free on sodium valproate	Sitting at 12 mths, walking at 3 yrs	Moderate	Slow acquisition, only single words at 14 yrs	Yes	Yes
F5	II:2	F, 6 yrs	ID, MD	3 yrs	Infrequent seizures in the setting of fever	Seizure-free on sodium valproate	Sitting unsupported at 23 mths, walking at 3 yrs	Moderate	First words at 18 mths, simple phrases at 6 yrs	Yes	Yes
F6	II:1	M, 4 mthsa	NDEE	First day of life	Epileptic spasms	ND	ND	Severe	ND	Yes	Yes
F7	II:1	M, 7 yrs	IDEE	14 mths	Epileptic spasms, gelastic seizures, and other complex partial seizures	Resistant	Sitting with support at 14 mths	Severe	Absence	Yes, drooling, g-tube	Yes
F8	II:1	F, 25 mths	IDEE	12 mths	Epileptic spasms, stimulus-sensitive startles	Good response to ketogenic diet	Absence	Severe	Absence	Yes, g-tube	Yes
F9	II:1	F, 4 yrs	IDEE	8 wks	Epileptic spasms, myoclonic seizures, tonic seizures, clonic seizures	ND	Absence	Severe	Absence	Yes	Yes
F10	II:1	F, 5 mthsa	IDEE, multiple congenital anomaliesb	4 mths	Epileptic spasms	Resistant	Absence	Severe	Absence	Yes, g-tube	Yes
F11	II:1	M, 16 mths	IDEE	3 mths	Epileptic spasm, myoclonic seizure, tonic seizure, atonic seizure, clonic seizures	ND	Absence	Severe	Absence	Yes, NJ fed	Yes
F12	IV:3	F, 8 mths	NDEE	First day of life	Postpartum jitteryness, myoclonic jerks, and epileptic spasms	ND	ND	Severe	ND	Yes, g-tube	Yes
F13	II:4	F, 13 mths	IDEE	2 mths	Clusters of epileptic spasms	Resistant	Absence	Severe	ND	Yes, g-tube	Yes
F14	II:1	F, 8 yrs	IDEE	4 mths	Segmental and synchronous myoclonus, epileptic spasms in flexion	Resistant	Absence	Severe	Absence	Yes, g-tube	Yes
F15	II:1	F, 8 mths	IDEE	4 mths	Epileptic spasms	Resistant	Absence	Severe	Absence	Yes	Yes
F16	II:1	F, 11 yrs	IDEE	12 mths	Daily generalized tonic and myoclonic seizures	Resistant	Absence	Severe	Absence	Yes, g-tube	Yes
F17	II:2	F, 5 yrs	ID, MD	None	No epilepsy	n/a	Absence	Severe	Absence	No	Yes
F18	II:1	F, 8 yrs	IDEE	20 mths	Daily generalized tonic clonic and later myoclonic seizures with eye fluttering	Resistant	Absence	Severe	Absence	No	Yes
F19	II:1	F, 5 yrs	IDEE	30 mths	Recurrent generalized tonic clonic convulsions	ND	Absence	Severe	Absence	No	Yes
F19	II:2	F, 3 yrs	IDEE	18 mths	Daily myoclonic seizures with eye fluttering	ND	Absence	Severe	Absence	ND	Yes
F20	II:2	M, 6 yrs	IDEE	3 yrs	Epileptic spasms,myoclonic seizure, and tonic seizure	ND	Absence	Severe	Absence	Yes with difficulty	Yes
F21	II:2	F, 4 yrs	IDEE	18 mths	Myoclonic seizure	ND	Absence	Severe	Absence	Yes with difficulty	Yes
F22	II:5	F, 9 yrs	IDEE	20 mths	Epileptic spasms	Resistant	Absence	Severe	Absence	Yes, NJ fed	ND
F23	II:5	F, 7 yrs	IDEE	5 mths	Seizures in the setting of fever	ND	ND	Severe	Delay	ND	Mild
F24	II:1	M, 7 yrs	IDEE	6 mths	Myoclonic seizures, generalized tonic clonic seizures	Resistant	Absence	Severe	Absence	Yes, g-tube	Yes
F25	II:4	M, 8 yrs	IDEE	11 mths	Myoclonic seizures, generalized tonic clonic seizures	Resistant	Absence	Severe	Absence	Yes, g-tube	Yes

M male, F female, IDEE infantile developmental epileptic encephalopathy, NDEE neonatal onset developmental epileptic encephalopathy, MD motor disorder, n/a not applicable, ND non-determined, ID intellectual disability, g-tube gastrostomy tube, NJ nasojejunal, wks weeks, mths months, yrs years.

^aAge at death.

^bMultiple congenital anomalies in F16-II:1: prenatal polyhydramnios; multiple ocular anomalies (bilateral cataracts, multiple bilateral lens colobomas, bilateral microphthalmia, hypoplastic iris, iris and lenticular vascularization, bilateral anterior segment dysgenesis, posterior synechiae bilaterally secondary to neovascularization); megacystis; neurogenic bladder; moderate hiatal hernia; camptodactyly of 3rd and 4th fingers and overriding 2nd and 4th digits on the right hand; long tapered fingers; skeletal survey showed overlapping of the parietal bones and mild elongation of the 2nd through 5th fingers.