Table 1.
Electroclinical features, MRI, and pathological findings in patients with KCNT1‐related SHE and MCD
| Case | Mutation | Age/sex/ Ethnic backgr. | Age at seiz. onset | Seizure semiology | Epilepsy syndr. | Interictal scalp EEG findings | MRI Findings (Tesla) | Intracranial/ scalp video‐EEG findings | Surgery/ Age at surgery | Surgery outcome/follow‐up/ seiz. semiology | Histo pathol. | Current TRT | Comorbidities |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A.III.1 |
c.2849G>A; p.Arg950Gln |
23 y/M/ Danish |
8 y | Sleep‐related HMS | ADSHE | Bifrontal sharpwaves and bitemporal asynchronous sharpwaves |
Unremarkable (3 T) |
Sleep‐related HMS (asymmetric posturing, choking, retching, distressed breathing)IEEG: R mesial fronto‐central onset |
Resection of the R mesial fronto‐parietal regions/ 14 y |
Engel Class IV/ 8 y/sleep‐related HMS (tingling, choking, vocalizations) |
FCD type Ib |
CBZ, LTG, TPM, LCS, CNZ | Behavioral disturbances (impulsivity, attention deficit), poor executive functions |
| B.III.1 |
c.2386T>C; p.Tyr796His |
37y/F/ Italian |
3 y | Sleep‐related focal seizures with tonic posturing | ADSHE | L fronto‐temporal spikes, increased by sleep | L Periventric. nodular heterotopia with transmantlesigns (1.5 T) | Not performed | Not performed | – | – | CBZ, TPM |
Severe psychosis, learning disabilities, precocious puberty |
| B.III.2 |
c.2386T>C; p.Tyr796His |
35 y/M/ Italian |
3 y | Sleep‐related HMS, nocturnal wandering | ADSHE | R fronto‐temporal theta activity |
Unremarkable (1.5 T) |
Sleep‐related HMS (pelvic thrusting, tonic posturing, pedaling) IEEG: R ant. cingular onset with spread to R mesial superior frontal gyrus and orbital region |
Resection of the R anterior cingulate gyrus + lateral frontal cortex (F1,F2, post. F3)/21 y |
Engel Class II (at present/14 y/ rare diurnal seiz. with staring |
FCD type Ib |
CBZ, VPA, PB |
Severe psychosis, learning disabilities, precocious puberty |
| C |
c.2800G>A; p.Ala934Thr de novo |
27 y/F/ French |
1 y 8 m |
Sleep‐related R tonic motor seizures with consciousness impairment; infrequent daytime episodes with R lower limb atonia, sudden fall, consciousness impairment. |
SHE | Bilateral multifocal spikes |
Discrete temporal lobe asymmetry (R > L) (1,5 Tesla) Uninformative (sequelæ of the previous surgery) (3 Tesla) |
(before first surgery): Sleep‐related R sided tonic seiz., axial tonic seiz., “agitated” seiz. IEEG: L multifocal epileptogenic zone with centro‐parietal predominance (before 2nd surgery): Sleep‐related R side grimacing, R sided tonic seiz., R sided clonic jerks Scalp EEG: L multifocal (parieto‐ post. temporal occipital), R fronto‐temporal onset |
First surgery: L centro‐parietal resection/ 6 y 2nd surgery: L parieto‐occipital (+ temporo‐occipital junction) resection/ 25 y |
Engel Class IV/ 2 y (after 2nd surgery)/ Semiology unchanged |
FCD type Ia |
CBZ, LEV, PB, VNS |
Learning disabilities and delayed psychomotor development since 3 years of age. Worsening of the cognitive status and appearance of autistic features over the years. |
HMS, hypermotor seizures; IEEG, intracranial EEG; CBZ, carbamazepine; LTG, lamotrigine; TPM, topiramate; LCS, lacosamide; CNZ, clonazepam; LEV, levetiracetam; CLB, clobazam; PB, phenobarbital; VPA, valproic acid; VNS, vagus nerve stimulator; periventr., periventricular; ant., anterior; backgr, background; SE, status epilepticus; y, years; mo, months; seiz., seizure; R, right; L, left.