Table 1.

Identification of phenotypes and genotypes.

	SCN1A	CDLK5	MECP2	STXBP1	UBE3A
Number of patients	2	3	2	1	2
Gender	Males	Females	Females	Male	Females
Age of disease onset	6 months	Before 3 months	8–9 months	2.5 months	3–6 months
Age of genetical diagnosis	12 months 15 months	40 months 13 months 9 months	19 months 44 months	5 months	8 months 16 months
Type of seizures	Hemiclonias, febrile seizures, status epilepticus tonic clonic	Focal; generalized tonic-clonic; infantile spasms	Generalized tonic-clonic Non-epileptic stereotyped movements	Infantile spasms	Focal seizures and chaotic movements in the limbs
EEG	Acute slow wave with emphasis in the frontal/central-parietal and temporal leads bilaterally	Hypsarrhythmia variants with “burst -suppression”	Slowing of main activity; Multifocal epileptiform activity with secondary bilateral synchronization in the form of peak/polypeak/sharp-slow wave complexes	Slow-wave type of EEG, at deepening of sleep weakly expressed “burst -suppression” areas appear	High-amplitude disorganized slow waves, constant continuous deceleration
Cognitive status	Speech delay	Intellectual delay	Regression of cognitive development	Speech delay	Intellectual delay
MRI	Normal	Normal	Normal	Normal	Normal
Response to therapy	Stiripentol resistance, good response to hydrocortisone, Topiramate, Valproate led to increased seizure frequency, clonazepam was not effective	Positive response to vigabatrin	Reduction of seizures when taking levetiracetam, topiramate	Positive response to vigabatrin	Positive response to levetiracetam
	FOXG1	ATP7A	PCDH19	FOLR1	PNPO
Number of patients	1	1	1	1	1
Gender	Female	Male	Female	Male	Male
Age of disease onset	2 months	2 months	1.5 years	1.5 years	6th day of life
Age of genetical diagnosis	24 months	11 months	36 months	8 year	75 days of life
Type of seizures	Apnoea; fading; focal seizures with eyes upward and arms extended to the sides; face palor	Clonic seizures with eyes deviation	Tonic; then with a predominance of the focal component (fading with head rotation)	Focal; then tonic-clonic. Subsequently–the development of non-epileptic stereotypies	Status epilepticus
EEG	Slow wave EEG; periodic secondary generalized epileptiform activity in the form of diffuse burst of polymorphic complexes spike/polyspike/sharp-slow waves with a focus in the right central temporal leads. Burst suppression.	In wakefulness and sleep, status epilepticus. Epileptiform activity in the form of irregular sharp waves and complexes sharp slow waves	Periodic epileptiform activity with complexes of sharp-slow waves	Bursts of spike/polyspike/sharp-slow waves followed by a short suppression of the electrical activity of the brain	Constant pattern of burst suppression
Cognitive status	Speech delay	Intellectual delayed	Normal	Speech delay	Intellectual delay
MRI	Normal	MR signs of diffuse lesions of the white matter of the brain with the formation of cysts	Normal	leukoencephalopathy	Hypoplasia of the temporal lobes and corpus callosum
Response to therapy	Poor response to levetiracetam and valproate	Good response to IV diazepam; partial response to topiramate; no response to valproate	Good response to topiramate, valproate led to increased seizure frequency	Levetiracetam, lamotrigine, phenobarbital, clonazepam, pregabalin–not efficacious. Response to calcium folinate therapy	The seizures were stopped by the introduction of propofol until an infusion of pyridoxine was made for diagnostic purposes