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. Author manuscript; available in PMC: 2024 Aug 27.
Published in final edited form as: Pediatr Neurol. 2020 Apr 13;112:94–100. doi: 10.1016/j.pediatrneurol.2020.04.006

TABLE 2.

Clinical Characteristics and Treatment Response in 41 Individuals With SAS

SATB2 ID# Genomic Alteration EEG Clinical Seizures Age at Seizure Onset, Years Epilepsy Brain MRI Current Medications Other Prior Medications Seizure Outcome
168 17.8Mb deletion at 2q32.1q33.1 ED No N/A None N/A None None No clinical seizures
30 15Mb deletion at 2q33.1q34 SB Possible 1 ? Generalized tonic-clonic Abnormal CC, small pons None LEV Well controlled
19 8.4Mb deletion at 2q32.3q33.2 ED Yes 3 Focal epilepsy N/A None None Well controlled
77 8.1Mb deletion at 2q33.1q33.3 ED, SB Yes NVA Focal epilepsy Normal OXC LEV Well controlled
12 3.6Mb deletion at 2q33.1 ED Possible 7 ? Focal epilepsy (laughing fits with disorientation) At, HM, T2H LTG, OXC CBD Somewhat controlled
11 1.77Mb deletion at 2q33.1 ED Possible 6 ? Focal epilepsy HM None None Somewhat controlled
143 Intragenic deletion exons 5–11 ED Yes 2 Mixed epilepsy (benign rolandic epilepsy, atonic, tonic-clonic) Normal GBP, TPM LEV, OXC Somewhat controlled
80 Intragenic deletion exons 4–8 Excess BA No N/A None N/A None None No clinical seizures
2 Intragenic deletion exons 4–8 ED Yes 4 Focal epilepsy N/A OXC LEV, ESC Somewhat controlled
92 Intragenic deletion exon 7 ED Yes 2 Febrile seizures and generalized tonic-clonic epilepsy HM, T2H None LEV, VPA, LTG Well controlled
78 Intragenic deletion exon 4 ED Possible 5 ? Focal epilepsy (staring episodes) Abnormal CC, At, HM, large Ven OXC - Well controlled
159 c.163delG (p.Val55Trpfs*4) ED, SB No N/A None N/A None None No clinical seizures
136 c.257T>G (p.Leu86Arg) ED, SB No N/A Nonepileptic events N/A CBD - No clinical seizures
39 c.346G>T (p.Gly116*) ED No N/A Nonepileptic events HM CLZ - No clinical seizures
11184 c.580G>T (p.Glu194*) ED No N/A None Normal None None No clinical seizures
16 c.583dupT (p.Cys195Leufs*14) ED, SB Possible NVA ? Focal epilepsy (staring episodes) T2H None None
114 c.715C>T (p.Arg239*) ED No N/A None HM, T2H CBD LEV, ESC, LCM No clinical seizures
121 c.715C>T (p.Arg239*) ED, ESES like No N/A Nonepileptic events SC VPA, LTG - No clinical seizures
68 c.760C>T (p.His254Tyr) ED Yes 0.3 Mixed epilepsy (infantile spasms, intractable focal epilepsy, generalized convulsive epilepsy, epilepsy with continuous spikewave during slowwave sleep, Lennox-Gastaut syndrome) Abnormal CC, At, HM CLB, ZNS, BRI, VNS VGB, LEV, CS, KD Well controlled
46 c.1131_1132delGT (p.Ser378Profs*18) ED, SB Yes 5 Mixed epilepsy (both focal and generalized epilepsy : benign rolandic epilepsy, generalized tonic-clonic, absence, atonic Normal CLB, LTG - Well controlled
41 c.1165C>T (p.Arg389Cys) ED Yes 6 Focal epilepsy T2H LTG LEV Well controlled
153 c.1165C>T (p.Arg389Cys) ED Yes 3 Mixed epilepsy (focal epilepsy of childhood, absence) N/A VPA - Somewhat controlled
34 c.1174–2A>G ED, ESES like, SB Yes 2 Focal epilepsy (staring episodes) N/A None CLB Somewhat controlled
112 c.1175G>A (p.Gly392Glu) ED, ESES, SB Yes 2 Focal epilepsy Normal LEV, GBP, CLB - Somewhat controlled
53 c.1196G>A (p.Arg399His) ED No N/A None Abnormal CC, HM OXC LEV No clinical seizures
94 c. 1196G>A (p.Arg399His) ED No N/A Non epileptic events Normal None VPA, ESM, PHT No clinical seizures
134 c.1196G>A (p.Arg399His) ED Yes 2 Generalized epilepsy (absence) N/A OXC - Well controlled
98 c.1196delG (p.Arg399Leufs*14) ED Yes 5 Mixed epilepsy (intractable atonic seizures and benign rolandic epilepsy) N/A VPA - Well controlled
29 c.1285C>T (p.Arg429*) ED No N/A Nonepileptic events Normal LEV, B6 - No clinical seizures
14 c.1286G>A (p.Arg429Gln) SB Possible 5 ? Focal epilepsy (one tonic-clonic episode; staring episodes) T2H VPA - Somewhat controlled
23 c.1286G>A (p.Arg429Gln) ED Possible 4 ? Focal epilepsy (Staring episodes) T2H None Keppra Somewhat controlled
70 c.1286G>A (p.Arg429Gln) ED No N/A None Normal None None No clinical seizures
105 c.1286G>A (p.Arg429Gln) ED Possible 7 ? Focal epilepsy (single convulsive episode, staring spells) HM None None Well controlled
164 c.1307A>T (p.Glu436Val) ED, SB Yes 5 Mixed epilepsy (focal, generalized atonic) Abnormal CC, HM, large Ven ZNS - Somewhat controlled
124 c.1375C>T (p.Arg459*) ED No N/A None Normal None None No clinical seizures
1093 c.1425_1426dupGG (p.Val476Glyfs*21) ED No N/A None UF asymmetry, T2H None None No clinical seizures
38 c.1495A>T (p.Lys499*) ED Possible 7 ? Focal epilepsy (mouth twitching) Large Ven, T2H None None
109 c.1554T>G (p.Cys518Trp) ED, SB Yes 2 Focal versus generalized epilepsy (atypical absence) Normal VPA, LTG LEV, TPM Somewhat controlled
75 c.1592dupA (p.Asn531Lysfs*21) ED Yes 4.5 Mixed epilepsy (both focal and intractable generalized nonconvulsive epilepsy, generalized convulsive epilepsy) HM None VPA, LEV, B6, KD Well controlled
7 c.1728delT (p.Glu577Serfs*47) ED No N/A Nonepileptic events HM, T2H CBZ LEV, CBZ No clinical seizures
116 c.1903G>T (p.Asp635Tyr) ED, ESES Yes 3 Focal epilepsy HM CLB, OXC - Well controlled

Abbreviations:

At = Atrophy

B6 = vitamin B6;

BA = Beta activity

BRI = Brivaracetam

CBD = Cannabidiol oil

CBZ = Carbamazepine

CC = Corpus callosum

CLB = Clobazam

CLZ = Clonazepam

CS = Corticosteroids

ED = Epileptiform discharges

EEG = Electroencephalography

ESC = Eslicarbazepine

ESES = Electrical status epilepticus in sleep

ESM = Ethosuximide

GBP = Gabapentin

HM = Hypomyelination

KD = Ketogenic diet

LCM = Lacosamide

LEV = Levetiracetam

LTG = Lamotrigine

MRI = Magnetic resonance imaging

N/A = Not applicable

NAV = Not available

OXC = Oxcarbazepine

PHT = Phenytoin

SAS = SATB2-associated syndrome

SB = Slow background

T2H = T2 hyperintensities

TPM = Topiramate

UF = Uncinated fascicle

Ven = Ventricles

VGB = Vigabatrin

VNS = Vagus nerve stimulation

VPA = Valproate

ZNS = Zonisamide