BENIGN FAMILIAL NEONATAL SEIZURES
 
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BENIGN FAMILIAL NEONATAL SEIZURES

 

DEFINITION:

Neonatal seizures characterized by multifocal clonic seizures that usually remit with time.

EPIDEMIOLOGY:

  • incidence: rare
  • age of onset:
    • first 2 weeks of life
  • risk factors:
    • familial - autosomal dominant (genetic heterogeneity has been observed in this disorder)
      • chrom.#: 20q13.3
        • gene: voltage-gated potassium channel (KCNQ2)
      • chrom.#: 8q24
        • gene: voltage-gated potassium channel (KCNQ3)

PATHOGENESIS:

1. Background

  • first reported in 1968 by Bjerre and Corelius
  • epilepsy eventually develops in 14%
  • KCNQ2 and KCNQ3 belong to a new KQT-like class of potassium channels

2. Genetic Defect

  • genetic mutations within the genes coding for voltage-gated potassium channels (KCNQ2 and KCNQ3) -> ? unstable resting membrane potential -> increased predisposition to seizure activity
  • mutations have been identified in the KCNQ2 and KCNQ3 genes in patients with Benign Familial Neonatal Seizures (Singh, N.A. et al., Nature Genetics 18(1):24, (1998); Charlier, C. et. al., Nature Genetics 18(1):53, (1998))
  • these mutations include a deletion, missence mutation, frameshift mutation, and splice-site mutation

CLINICAL FEATURES:

1. Seizures

1. Multifocal Clonic

  • rhythmic slow movements of the limbs
  • involve several body parts and often migrate in a non-Jacksonian manner

INVESTIGATIONS:

1. EEG

  • normal

MANAGEMENT:

1. Antiepileptic Medications

  • phenobarbital or dilantin
  • treat for 4 weeks then taper
  • seizures may be refractory to medication
  • seizures usually spontaneously remit after 3 weeks

 

 

 

 

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