• Information
  1. Introduction
  2. Overview of Conditions
  3. Generlized Epilepsy with Febrile Seizures Plus
  4. Benign Familial Neonatal Convulsions

A. Introduction

1. Group of signs and symptoms that occur together
2. Identification of appropriate syndrome helps determine prognosis and treatment
3. Many of these syndromes caused by mutations in ion channel proteins (Table 1, Ref [])
4. Seizures first occur in infants or children

B. Overview of Conditions

1. Generlized Epilepsy with Febrile Seizures Plus
2. Benign Familial Neonatal Convulsions
3. Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
4. Childhood Absence Epilepsy and Febrile Seizures
5. Autosomal Dominant Partial Epilepsy with Auditory Features
6. Idiopathic
   1. Infantile Spasms (West's Syndrome)
   2. Lennox-Gastaut Syndrome
   3. Severe myoclonic epilepsy in infants

C. Generlized Epilepsy with Febrile Seizures Plus

1. Febrile seizures plus at least one other type of seizure
2. Absence, myoclonic, atonic or afebrile generalized tonic-clonic seizures
3. Autosomal dominant inheritance
4. Genetic Defects
   1. Sodium Channel Subunit Mutations: SCN1B, SCN1A, or SCN2A
   2. Gamma-aminobutyric acid (GABA) - A receptor mutations

D. Benign Familial Neonatal Convulsions

1. Seizures not associated with neurologic or metabolic abnormalities
2. Seizures begin in first few days of life, usually remit within weeks
3. Autosomal dominant inheritance
4. Mutations in potassium channel subunits: KCNQ2 or KCNQ3
5. Mutations lead to substantially reduced potassium current

References

1. Chang BS and Lowenstein DH. 2003. NEJM. 349(13):1257