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Table 1 The genotype and phenotype of 19 patients with RHOBTB2 variants reported in literature

From: RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature review

Variants (NM_001127221.1) Age/Gender seizure onset Seizure type DD or ID Movement disorders Other manifestations EEG MRI Treatment Reference
c.1448G > A
(p.Arg483His)
8 years/F 2 months NA severe paroxysmal movement disorders microcephaly NA normal CBZ [3]
3.5 years/M 4 days GTCS severe dystonia, choreatic microcephaly,hypotonia, epicanthal folds NA delayed myelination PB, CBZ [3]
8 years/F 6 months SE severe dystonia microcephaly, hypotonia, hemiplegia NA enlarged ventricle thin corpus callosum TPM, ZNS, KD, CLB, LEV [3]
11 years/F 10 weeks Fs, SE severe no microcephaly,hypotonia, stereotype, hemiparesis NA thin corpus callosum, cortical atrophy PB, LEV, CZP [3]
7 years/F 3 weeks tonic febrile SE severe athetoid movement spastic quadriplegia, microcephaly slow with spikes on right posterior quadrant moderate brain atrophy PB, KBr, OXC, CZP [5]
NA/M 4 days Fs, non-convulsive SE NA hyperkinetic dyskinesia NA slow activity hippocampal atrophy, PB, LEV, VPA, CBZ [6]
3 years/F NA no severe dystonia, choreodystonic storm microcephaly, epicanthal folds, wide nasal bridge, long flat philtrum, small chin normal normal VPA, CZP, baclofen [4]
11 years/F 10 weeks NA DD no hemiparesis NA thin corpus callosum, cortical atrophy NA [7]
c.1531C > T
(p.Arg511Trp)
7 years/M 4 months GTCS, Fs severe paroxysmal movement disorders microcephaly, hypotonia NA normal LEV [3]
3 years/M 3 years focal SE moderate paroxysmal dystonic attracks microcephaly, hypotonia, left hemiplegia NA right hemispheric swelling after focal seizures LEV [3]
c.1532G > A
(p.Arg511Gln)
14 years/F 4 weeks SE severe paroxysmal movement disorders microcephaly, hypotonia NA cortical atrophy VPA, pyridoxin [3]
17 years/F 4 months Fs, SE severe dystonic microcephaly, hypotonia NA normal LTG, TPM, PB, CBZ [3]
20 years/M 3 months tonic febrile SE severe left sided dyskinesia microcephaly Low voltage of right hemisphere and spikes on right frontotemporal lobes right hemisphere atrophy PHT [5]
NA/F 14 years SE NA no NA slow activity white matter damage NA [6]
9 years/F 3 months focal SE severe paroxysmal movement disorders microcephaly, hypotonia, ataxia background asymmetry, sharp waves cortical atrophy, corpus callosum hypoplasia VPA, CBZ [8]
c.1528A > G
(p.Asn510Asp)
23 months/M 9 months SE severe choreatic microcephaly, hypotonia NA normal LEV [3]
c.1421C > G
(p.Ala474Gly)
11.5 years/F 5.5 months febrile seizure severe no microcephaly NA normal none  
c.1519C > T,
(p.Arg507Cys)
9 years/F 15 months myoclonic, tonic febrile SE, Fs moderate dyskinesia microcephaly right hemisphere diffuse polyspikes normal VPA [5]
c.1975A > G
(p. Thr659Ala)
6 years/F 7 months Infantile spasms DD no NA NA normal NA [7]
  1. CBZ carbamazepine, CLB clobazam, CZP clonazepam, DD developmental delay, F female, Fs focal seizure, ID intellectual disability, KBr potassium bromide, KD ketogenic diet, LEV levetiracetam, LTG lamotrigine, M male, NA not applicable, OXC oxcarbazepine, PB phenobarbital, PHT phenytoin, SE status epilepticus, VPA valproic acid, TPM topiramate
  2. Underlining indicates treatment with decreased seizure frequency or severity