Search

Objective:Although individual neonatal epilepsy syndromes are rare, as a group they represent a sizable subgroup of neonatal seizure etiologies. We evaluated the profile of neonatal epilepsies in a prospective cohort of newborns with seizures.Methods:Consecutive newborns with seizures were enrolled in the Neonatal Seizure Registry (an association of 7 US children's hospitals). Treatment and diagnostic testing were at the clinicians' discretion. Neonates with seizures related to epileptic encephalopathies (without structural brain abnormalities), brain malformations, or benign familial epilepsies were included in this analysis.Results:Among 611 consecutive newborns with seizures, 79 (13%) had epilepsy (35 epileptic encephalopathy, 32 congenital brain malformations, 11 benign familial neonatal epilepsy [BFNE], 1 benign neonatal seizures). Twenty-nine (83%) with epileptic encephalopathy had genetic testing and 24/29 (83%) had a genetic etiology. Pathogenic or likely pathogenic KCNQ2 variants (n = 10) were the most commonly identified etiology of epileptic encephalopathy. Among 23 neonates with brain malformations who had genetic testing, 7 had putative genetic etiologies. Six infants with BFNE had genetic testing; 3 had pathogenic KCNQ2 variants and 1 had a pathogenic KCNQ3 variant. Comorbid illnesses that predisposed to acute symptomatic seizures occurred in 3/35 neonates with epileptic encephalopathy vs 10/32 with brain malformations (p = 0.03). Death or discharge to hospice were more common among newborns with brain malformations (11/32) than those with epileptic encephalopathy (3/35, p = 0.01).Conclusions:Neonatal epilepsy is often due to identifiable genetic causes. Genetic testing is now warranted for newborns with epilepsy in order to guide management and inform discussions of prognosis.

A 2-day-old baby girl was transferred to our facility for evaluation and management of seizures. She was born to nonconsanguineous parents from Somalia at 41 5 7 weeks of gestation. The pregnancy was uneventful. The mother was group B streptococcus–positive and was appropriately treated with antibiotics during labor. Labor and vaginal delivery were uncomplicated (no history of prolonged rupture of membranes or birth trauma). The baby's Apgar scores were 9 at 1 and 5 minutes. The baby appeared to be well on the first day of life but began having seizures on the second day. On presentation to our facility, the patient exhibited rhythmic jerking movements of her extremities, consistent with myoclonic seizures. She also had multiple apneic episodes and was therefore intubated and mechanically ventilated. EEG recording showed an asynchronous burst suppression pattern with occasional generalized epileptiform discharges that were associated with body jerking, consistent with severe encephalopathy with seizures. On general physical examination, she was normocephalic and nondysmorphic. There were no abnormal skin findings and no hepatosplenomegaly. Neurologic examination revealed diffuse hypotonia with symmetrically hypoactive reflexes in all 4 extremities. Bedside funduscopic examination revealed normal Moro; suck and rooting reflexes were poor, but palmar grasp reflex was present bilaterally. There was no family history of neurologic or metabolic disorders (including seizures). ### Questions for consideration: 1. What is the differential diagnosis for neonatal seizures? 2. Does the burst suppression pattern on EEG limit the differential diagnosis? 3. Can this infant's presentation be classified as an epilepsy syndrome? The diagnostic possibilities for neonatal seizures are broad and include common causes such as electrolyte imbalance (hypocalcemia, hypomagnesemia, hyponatremia, or hypoglycemia), hypoxic ischemic encephalopathy, neonatal stroke (ischemic or hemorrhagic), maternal drug withdrawal, benign neonatal seizures, and infectious diseases (e.g., group B streptococcus sepsis or meningitis) and less common …