Epilepsy Syndromes in Children - Neonatal Onset

Question 1

benign epilepsies with neonatal onset

Answer 1

benign neonatal seizures

benign familial neonatal seizures

Question 2

highly encephalopathic

Answer 2

early infantile epileptic encephalopathy

early myoclonic encephalopathy

Question 3

benign neonatal seizures - aka

Answer 3

fifth-day fits or benig n idiopathic neonatal convulsions

Question 4

benign neonatal seizures

Answer 4

self-limited disorder presenting with seizures within the first week of life following an uneventful gestational and perinatal course

Question 5

onset of benign neonatal seizures

Answer 5

majority between days 4 and 6

Question 6

benign neonatal seizures - other symptoms/neurologic sequelae?

Answer 6

otherwise symptomatic and normal neurologic status between events

Question 7

benign neonatal seizures - family history?

Answer 7

negative for early-life seizures

Question 8

benign neonatal seizures - symptomology

Answer 8

unifocal clonic
rarely focal tonic
dissipate after 2 days

Question 9

benign neonatal seizures - treatment

Answer 9

initiated for acute seizure management, but is not continued once diagnosis established and other conditions are excluded

Question 10

benign neonatal seizures - what to rule out?

Answer 10

hypoglycemia, sepsis, and meningitis

Question 11

benign neonatal seizures - EEG background

Answer 11

normal or nonspecific

Question 12

benign neonatal seizures - ictal EEG

Answer 12

theta pointu alternant - a nonreactive, discontinuous focal, theta frequency rhythm with intermixed sharp waves that may shift between hemispheres and persist days to weeks following cessation of clinical seizures

Question 13

benign neonatal seizures - outcome

Answer 13

favorable

Question 14

benign familial neonatal epilepsy - causative genes

Answer 14

KCNQ2

complex genotype-phenotype correlation

Question 15

benign familial neonatal epilepsy - onset

Answer 15

earlier than benign neonatal seizures
between days 2 and 3
rarely as late as 2-3 months

Question 16

benign familial neonatal epilepsy - gestation?

Answer 16

healthy full-term neonate

Question 17

benign familial neonatal epilepsy - seizure symptomology

Answer 17

hypertonia, apnea, facial movements, and clonus

myoclonus, spasms, or generalized tonic-clonic seizures may also occur

Question 18

benign familial neonatal epilepsy - duration/frequency

Answer 18

brief but may cluster and be very freqent

Question 19

benign familial neonatal epilepsy - outcome

Answer 19

remission is expected by 6 months of age

Question 20

benign familial neonatal epilepsy - genetics

Answer 20

autosomal dominant inheritance with high degree of penetrance

Question 21

benign familial neonatal epilepsy - mutations

Answer 21

potassium channels KCNQ1 (on chromosome 20q) and KCNQ3 (on chromosome 8q)

Question 22

benign familial neonatal epilepsy - diagnosis

Answer 22

normal neurologic examination, positive family history of neonatal seizures, and clinical course consistent with the syndrome
confirmation with genetic testing is available but is not necessary

Question 23

early-onset epileptic encephalopathies

Answer 23

separated into early infantile epileptic encephalopathy (Ohtahara syndrome) and early myoclonic encephalopathy

Question 24

early infantile epileptic encephalopathy (Ohtahara) - EEG

Answer 24

burst suppression persistent during both wake and sleep

Question 25

early infantile epileptic encephalopathy (Ohtahara) - symptom

Answer 25

tonic seizures

predominant type: tonic, but myoclonic can occur

Question 26

early infantile epileptic encephalopathy (Ohtahara) - onset

Answer 26

first 10 days of life

both in utero onset and onset later in early infancy are described

Question 27

early infantile epileptic encephalopathy (Ohtahara) - prognosis

Answer 27

can progress to West syndrome with infantile spasms or Lennox-Gastaut syndrome, which is associated predominantly with tonic seizures

Question 28

Lennox-Gastaut syndrome commonly

Answer 28

associated predominantly with tonic seizures, slow spike-wave discharges and intermittent runs of multiple spikes or fast activity on EEG and profound neurodevelopment impairment

Question 29

early infantile epileptic encephalopathy (Ohtahara) - cause

Answer 29

more likely structural

Question 30

early myoclonic epilepsy

Answer 30

metabolic disorders - glycine encephalopathy, pyridoxine/pyridoxal 5’-phosphate dependency, biotinidase deficiency, Leigh syndrome

Question 31

early myoclonic epilepsy - symptoms

Answer 31

myoclonic seizures

Question 32

early myoclonic epilepsy - EEG

Answer 32

burst suppression more evident during sleep

Question 33

early infantile epilepsy encephalopathy (Ohtahara) - genes

Answer 33

early infantile epileptic encephalopathy 1 = ARX (lissencephaly)
early infantile epileptic encephalopathy 2 = CDKL5
early infantile epileptic encephalopathy 3 = SLC25A22
early infantile epileptic encephalopathy 4 = STXBP1
early infantile epileptic encephalopathy 7 = KCNQ2
early infantile epileptic encephalopathy 11 = SCN2A ** sodium channelopathies