Table 2.

Clinical features of the current and previously reported patients with SPG4-related epilepsy

Authors	Sex	Age at onset of spastic paraplegia	Age at onset of seizures	Seizure type	Cognitive impairment	EEG findings	Neuroimaging	Response to anticonvulsants	SPAST variants
Our patient	Male	2 yr	13 yr	Focal onset seizures	+	Spike and wave bursts over the right frontal area	Right hippocampal atrophy	Effective: VPA, LTG, LCM Ineffective: CBZ, LEV, ZNS	c.1330G>C (p.Asp444His)
Heinzlef et al. [6] (n = 3)	Female (n = 2) Male (n = 1)	20–52 yr	17–66 yr	Generalized seizures, partial motor seizures	$$	Generalized theta delta waves	Sulcus widening, ventriculomegaly	na	Genetic linkage
Maed et al. [7] (n = 4)	Female (n = 3) Male (n = 1)	30–50 yr	8 mo to 14 yr	Generalized tonic-clonic seizures, tonic spasms, jerking movements of the limbs	+ (n = 1) na (n = 3)	na	na	na	c.1281delT (p.Phe42 7Leufs*11)
Nielsen et al. [8] (n = 1)	Male	30 yr	6 yr	Impaired awareness with oral automatisms	+	Normal	Cerebral atrophy	Effective: CZP Ineffective: PRM, PHT	C.1468C>T (p.Gln490*)
Bertelli et al. [9] (n = 1)	Male	20 yr	na	Partial seizures, generalized seizures	+	Abnormalities over the temporal area	Vascular anomaly, cortical atrophy, leukoaraiosis ventriculomegaly,	Effective: CBZ, LEV	c.1172T>C (p.Leu391Pro)
Orlacchio et al. [10] (n = 14)	na	9–35 yr	Early childhood	Partial complex seizures	+ (n = 11) Normal (n = 3)	Anterior or midtemporal spikes	Cortical atrophy, hippocampal sclerosis	na	c.961dupG (p.Asp321Glyfs*6)

Nucleotides and amino acid residues were numbered according to the GenBank reference sequences (NM_014946 and NP_055761).

EEG, electroencephalogram; yr, years; mo, months; na, data not available; VPA, valproate; LTG, lamotrigine; LCM, lacosamide; CBZ, carbamazepine; LEV, levetiracetam; ZNS, zonisamide; CZP, clonazepam; PRM, primidone; PHT, phenytoin.