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Table 2 Data on initial evaluation and treatment, EEG evolution and brain MRI

From: Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

 

Term. Clinical examination at birth

Treatment during the first month

EEG evolution (age)

Brain MRI (age)

Patient 1

Full term. Hypotonia. No eye contact. BW: 3000 g HC: 35 cm

PHB VGB

1 m: Continuous with rare posterior spikes and fast rhythms

Day 7: Normal, absence of any signal abnormality. 2 y: Discrete global brain atrophy, thin corpus callosum

6 m: slow background, rare focal spikes.

Patient 2

34 GW Fetal distress, apnea, movements disorder BW: 2,040 g HC: 30 cm

MDZ, PHB, B6, TPM, VGB

0-7 m: Suppression-burst >7 m: Hypsarythmia

D13: absence of any signal abnormality. 3 m: Absence of signal abnormality

Patient 3

Full term Failure. to thrive. Feeding difficulties BW: 3,770 g HC: 37.5 cm

PHB, B6, PHT, VGB, TPM, CLB.

1-6 w: Asynchronous SB. 2-8 m: bilateral Bursts of central spikes 1-6 y: Bursts of rhythmic generalized spikes at 3 Hz

Day 3: T1 bilateral hypersignal of pallida, tegmentum, locus niger, hippocampi. Abnormal ADC in these regions. 2 y: T1 hypersignal of the same structures and diffuse T1 hypersignal of the white matter. Brain atrophy

Patient 4

Full term. Normal BW: 3,580 g HC: 37 cm

PHB, PHT, VPA

0-2 m: Suppression-burst. 2–12 m: hypsarythmia. >12 m: Frequent multifocal spikes

Day 7: Normal CT scan 2 y: Thin Corpus Callosum, absence of signal abnormality

Patient 5

Full term. Normal BW: 3,240 g HC: 34 cm

PHB, PHT, B6, VGB, VPA

0-2 m: Suppression-burst. 2–6 m: continuous, slow background, multifocal spikes. >6 m: Rare spikes in temporal and occipital lobes

Day 10: no signal abnormality.

Patient 6

Full term. Normal BW: 2,790 g HC: 34,5 cm

ND

0-1 m: Suppression-burst. <1 m: Multifocal spikes, slow background

1 m: Normal

Patient 7

Full term. Normal BW: 3,180 g, HC: 36 cm

PHB, B6, PHT

0-1 m: Suppression-burst. 1–7 m: Continuous EEG, multifocal spikes 7–24 m: Hypsarythmic pattern. >24 m: Frequent spikes and spike wave in frontal regions

Day 4: Normal, absence of any signal abnormality

Patient 8

ND

PHB, PHT

0-2 m: Bursts of multifocal spikes, periods of flatness. >2 m: Multifocal spikes, poor organization

1 y: No structural or signal abnormality.

Patient 9

At term. Hypotonia. No eye contact. BW: 3,450 g HC: 35 cm

PB, CZP, VGB

0-2 m: Suppression-burst 2–6 m: Slow background, rare generalized spike waves. 6–12 m: Hypsarythmic pattern. >12 m: Rare asynchronous frontal and temporal spikes

Day 10: Normal, absence of any signal abnormality

Patient 10

Full term. No eye contact BW: 3,120 g HC: 33 cm

PB, PHT, TPM, VGB, B6,

0-2 m: discontinuous EEG. >2 m: continuous, slow EEG with rare generalized spikes

Day 5: T1: symmetrical hypersignal of the pallida, caudate nuclei and hippocampi T2: bilateral hypersignal of the parietal occipital white matter

Patient 11

Full term. Hypotonia, hyporeactivity, failure to feed

PHB, PHT, VPA.

0-1 m: Left or right spikes on a moderately abnormal background. >1 m: Occipital or temporal spikes with left prominence with progressive migration on the central temporal region

1 m: normal

Patient 12

Full term. Normal BW and HC

VGB, CBZ

0-2 m: Suppression-burst. 2–6 m: General slowing of the traces, no spike. 6 m-2 y: Rare spikes in the right central region, Normal background. >2 y: normal traces.

Day 7: T2 hyperintensity of the basal ganglia 2 y: Normal 3y: Normal

Patient 13

Full term. Fetal distress. BW, HC: ND

ND

ND

1 m: No structural abormality, no signal change

Patient 14

Full term. BW 3,750 g. Poor eye contact, trunk hypotonia with bouts of hypertonia

PHB, VGB, CBZ;

0-4 m: Asymmetrical suppression-burst 4-10 m: Left occipital spikes and slow waves 10 m-3 y: Normal background activity + posterior theta waves, No spike 3 y: Intermittent slow background, no spike >8 y: Normal

3 m: Normal

Patient 15

Oligoamnios Born at 30 Weeks (GA) BW: 1580 g HC: 29 cm

PHB, VPA

0-1 m: Suppression-burst >1 m: continuous traces (normal)

2 y: normal

Patient 16

Full term Global hypotonia, weak cry

CLN, PHT

0-1 m: absence of physiologic features, slow waves, spikes, brief flattening. 1–6 m: improvement of background activity, some generalized flattening episodes, left occipital slow waves. 6 m – 6 y: slow. background activity, rare spikes. 27 y: bilateral temporal slow waves. 30 y: normal background activity, bilateral fronto-temporal bursts of slow waves, photic stimulation-evoked slow spikes

17 y: slight T2 and FLAIR hyperintensity of thalami.

  1. GW gestational week, HC Head circumference, m month, Y year, PHB Phenobarbital, PHT phenytoine, VGB vigabatrin, TPM topiramate, CLN clonazepam, VPA Sodium Valproate, CBZ carbamazepine, CLB clobazam.