Table 2.

Epileptological features of living individuals.

Individuala	i01	i03	i04	i05	i06	i10
Variant	c.5 G > A p.(Arg2His)	c.521 C > T p.(Ala174Val)	c.521 C > T p.(Ala174Val)	c.652 G > A p.(Asp218Asn)	c.656 T > C p.(Ile219Thr)	c.1264 C > A p.(Arg422Ser)
Epilepsy	Yes	Yes	Yes	Yes	Yes	Yes
Age at seizure onset	8 mo	5 d	3 d	7 d	2 mo	n/a
Seizure types	1. Focal to bilateral tonic-clonic szs. 2. Focal autonomic szs.	1. Myoclonic szs. (neonatal) 2. Focal tonic szs. w/ impaired awareness 3. Epileptic spasms	Generalized tonic-clonic szs.	1. Focal to bilateral tonic-clonic szs. 2. Focal myoclonic szs.	1. Epileptic spasms 2. Focal to bilateral tonic-clonic and myoclonic szs.	Focal szs. w/ impaired awareness
Epilepsy type	Combined focal and generalized epilepsy	Combined focal and generalized epilepsy	Generalized epilepsy	Combined focal and generalized epilepsy	Combined focal and generalized epilepsy	Focal epilepsy
Primary	Unspecified DEE	Early myoclonic encephalopathy w/ burst suppression	Unspecified DEE	Unspecified DEE	West syndrome	Unspecified DE + E
Epilepsy syndrome
Epilepsy outcome	Refractory to treatment	Partially controlled	n/a	Refractory to treatment	Refractory to treatment	Partially controlled
Development prior to seizure onset	Delayed	Neonatal onset	Neonatal onset	Neonatal onset	Unremarkable	Delayed
EEG at onset	Left sided temporal slowing with frequent high voltage spikes and slow-waves	Constant suppression pattern, evolving to burst-suppression pattern in infancy	n/a	n/a	Hypsarrhythmia, multifocal spikes, generalized slowing	n/a
EEG at follow-up	Right sided posterior slow-waves and occipital paroxysms of spikes	Multifocal, bihemispheric spikes, CSWS (age > 3 yrs)	n/a	Dissociated brain activity, bilateral hypsarrhythmia pattern during sleep, suppression-burst pattern (left hemisphere)	Generalized slowing, occasional multifocal spikes, atypical hypsarrhythmia	n/a
Current AED	Vigabatrin, levetiracetam, valproic acid, lamotrigine	Vigabatrin	Topiramate, phenobarbital	Lamotrigine, levetiracetam, clobazam, cannabidiol	Topiramate, levetiracetam	Valproic acid
AED synopsis	n/a	Levetiracetam, methylprednisolone	n/a	Valproic acid, vigabatrin, topiramate, lacosamide, phenobarbital, sultiame	Vigabatrin, phenobarbital, valproic acid, sultiame	n/a

AED anti-epileptic drug, DEE developmental and epileptic encephalopathy, DE + E developmental encephalopathy with epilepsy, CSWS continuous spike-and-wave during sleep, FU follow-up, n/a not assessed, w/ with.

^aFour individuals were excluded from this synopsis due to termination of pregnancy (i08, i09) and absence of epilepsy (i02, i07), respectively.