Genotype–Phenotype correlations of SCARB2 associated clinical presentation: a case report and in-depth literature review

Table 1 Clinical characteristics of the cases with the SCARB2 p.N45MfsX88 Pathogenic Variant

ID	Gender	Age at onset of symptoms (years)					Deceased		Imaging	EEG	EMG	Mental status
		Dysarthria	Tremor	Myoclonus	Seizures	Renal Involvement	Age (y)	Cause	Imaging	EEG	EMG	Mental status
Family 1
II.8	M	22	24	25	25	26	-		Normal brain MRI	BGS, PS, GSW	Normal NCV Long latency reflexes and giant SEP	Impaired executive functions/ attention
II.9	M	21	21	21	23	27	28	Aspiration pneumonia	Normal brain and spinal MRI	BGS, ECS, GSW	Normal NCV Long latency reflexes	Irritability, impaired executive functions/ attention
II.10	M	25	25	-	-	25	-		Normal brain MRI	Normal	Normal NCV/ SEP, Polyphasic MUPs and widespread decreased recruitment of motor units without spontaneous activity	NR
II.12	M	19	17	8	16	19	-		Normal brain MRI	Normal	Normal NCV/ SEP, Polyphasic MUPs and widespread decreased recruitment of motor units without spontaneous activity	NR
II.13	M	20	20	-	-	16	-		Normal brain MRI	Normal	Sensorimotor axonal neuropathy	NR
Family 2
Case 1	M	NR	17–18	18–19	18–19	+	-		Normal brain MRI	GSW	Sensorimotor axonal neuropathy	Normal
Case 2	F	NR	23	24	24	+	-		Normal brain MRI	GSW	-	Normal

This table indicates the clinical characteristics of the family 1 and the family 2 [9] harboring the same pathogenic variant (p.N45MfsX88) reported from Turkey. Family 1 is described in this study and family 2 was recently published by Uçan Tokuç et al. [9]. BGS background slowing, PS photosensitivity, GSW generalized spike-wave, ECS eye closure sensitivity, NCV nerve conduction velocity, SEP somatosensory evoked potential, MUP motor unit potential, y years, M male, F female, NR not reported, MRI magnetic resonance imaging

ISSN: 1471-2377