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  • Neonatal epilepsy syndromes and GEFS+: mechanistic considerations
  • Burgess DL
  • Epilepsia 2005[]; 46 Suppl 10 (): 51-8
  • Genetic analyses of familial epilepsies over the past decade have identified mutations in several different ion channel genes that result in neonatal or early-onset seizure disorders, including benign familial neonatal convulsions (BFNC), generalized epilepsy with febrile seizures plus (GEFS+), and severe myoclonic epilepsy of infancy (SMEI). These genes encode voltage-gated Na+ channel subunits (SCN1A, SCN2A, SCN1B), voltage-gated K+ channel subunits (KCNQ2, KCNQ3), and a ligand-gated neurotransmitter receptor subunit (GABRG2). While the opportunity to genotype patients for mutations in these genes can have an immediate and significant impact on our ability to diagnose and provide genetic counseling to patients, the ultimate goal is to use this molecular knowledge to develop effective treatments and cures for each disorder. This will necessitate elucidation of the molecular, cellular, and network mechanisms that translate ion channel defects into specific epilepsy phenotypes. The functional analysis of epileptogenic channel mutations in vitro and in vivo has already provided a vast amount of raw biophysical data, but attempts to interpret these data to explain clinical phenotypes so far appear to raise as many questions as they answer. Nevertheless, patterns are beginning to emerge from these early studies that will help define the full scope of the challenges ahead while simultaneously providing the foundation of future efforts to overcome them. Here, I discuss some of the potential mechanisms that have been uncovered recently linking mutant ion channel genes to neonatal epilepsy syndromes and GEFS+.
  • |*Mutation[MESH]
  • |Age of Onset[MESH]
  • |Calcium Channels/genetics/physiology[MESH]
  • |Comorbidity[MESH]
  • |Epilepsy, Benign Neonatal/epidemiology/genetics/physiopathology[MESH]
  • |Epilepsy, Generalized/epidemiology/*genetics/*physiopathology[MESH]
  • |Genotype[MESH]
  • |Humans[MESH]
  • |In Vitro Techniques[MESH]
  • |Infant, Newborn[MESH]
  • |Ion Channels/*genetics/*physiology[MESH]
  • |KCNQ2 Potassium Channel/genetics/physiology[MESH]
  • |NAV1.1 Voltage-Gated Sodium Channel[MESH]
  • |NAV1.2 Voltage-Gated Sodium Channel[MESH]
  • |Nerve Tissue Proteins/genetics/physiology[MESH]
  • |Phenotype[MESH]
  • |Potassium Channels, Voltage-Gated/genetics/physiology[MESH]
  • |Receptors, Neurotransmitter/genetics/physiology[MESH]
  • |Research Design[MESH]
  • |Seizures, Febrile/epidemiology/*genetics/*physiopathology[MESH]
  • |Sodium Channels/genetics/physiology[MESH]
  • |Syndrome[MESH]

  • *{{pmid16359473}}
    *<b>[ Neonatal epilepsy syndromes and GEFS+: mechanistic considerations ]</b> Epilepsia 2005; 46 Suppl 10() ; 51-8 Burgess DL


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    51 .46 Suppl 10 2005