Epileptic Encephalopathy and Cerebellar Atrophy Resulting from Compound Heterozygous CACNA2D2 Variants

Table 1

Clinical features of individuals carrying recessive CACNA2D2 variants.

	This Report	Edvardson et al. 2013	Pippucci et al. 2013
Genomic position	chr3:50418428	chr3:50402595	chr3:50416390
	chr3:50402577
cDNA change	c.782C>T	c.3119A>G	c.1295delA
	c.3137T>C
Protein change	p.Pro261Leu	p.Leu1040Pro	p.Asn432Thrfs35
	p.Leu1046Pro
Sex	Male	2 Males, 1 Female	Male
Seizure Onset	7 months	20-60 days	5 months
Epileptic Encephalopathy	+	+	+
Developmental delay	+	+	+
Cerebellar atrophy	+	+	+
Refractory seizures	+	+	+
Seizure types	Absence, atonic, tonic, tonic-clonic	Atonic, clonic, tonic	Absence, clonic, tonic-clonic
EEG	2.5-3 Hz frontally predominant generalized spike and wave discharges	Slow background rhythm with multifocal spikes and slow waves	Multifocal spikes over the right centrotemporal and left parietooccipital regions, slowed background activity
Other features	Status epilepticus, hypotonia, tremor and ataxia, atypical eye movements	Axial hypotonia, choreiform movements, no eye contact	Status epilepticus, axial hypotonia, dyskinetic movements, tremor, no eye contact, facial dysmorphisms, small head, uncoordinated eye movements

CACNA2D2 variants annotated according to Refseq NM_006030.2 and NP_006021.2. EEG, electroencephalogram. + indicates presence of feature.