IllnessEpilepsy, generalized with fever attacks, differential diagnosis

NGS +

Genetic epilepsy with febrile seizures plus (GEFS+) is a spectrum of seizure disorders, each with varying severity. High fever triggers recurrent seizures, including febrile seizures. Common forms of GEFS+ include myoclonic, atonic and absence seizures. Common in the GEFS+ spectrum and tending to be mild are simple febrile seizures that usually resolve by 5 years of age. If febrile seizures persist after 5 years of age, they regularly terminate in early adolescence. Dravet syndrome (severe myoclonic epilepsy in infancy) is often considered part of the GEFS+ spectrum and is the most severe disorder in this group. Affected infants typically have sustained febrile seizures lasting several minutes, which may progress to status epilepticus. Reduced brain functioning is common in Dravet syndrome. GEFS+ are virtually always inherited in an autosomal dominant manner (or occur sporadically). Family members with GEFS+ may have various combinations of febrile seizures and forms of epilepsy. Penetrance rates are estimated to be 70-90%, depending on the genetic basis. Diagnostic yield is approximately 50%. Inconspicuous findings by no means exclude clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1318/

• Spectrum from simple febrile seizures + generalized epilepsy to Dravet syndrome
• Allelic: Atrial fibrillation, familial, 13 (SCN1B)
• Allelic: Brugada syndrome 5 (SCN1B)
• Allelic: Cardiac conduction defect, nonspecific (SCN1B)
• Allelic: Erythermalgia, primary (SCN9A)
• Allelic: Insensitivity to pain, congenital (SCN9A)
• Allelic: Neuropathy, hereditary sensory + autonomic, type IID (SCN9A)
• Allelic: Paroxysmal extreme pain disorder (SCN9A)
• Allelic: Small fiber neuropathy (SCN9A)
• Developmental + epileptic encephalopathy 24 (HCN1)
• Epilepsy, childhood absence, susceptibility to, 2 (GABRG2)
• Epilepsy, familial temporal lobe, 5 (CPA6)
• Epilepsy, generalized, with febrile seizures plus, type 1 (SCN1B)
• Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
• Epilepsy, generalized, with febrile seizures plus, type 3 (GABRG2)
• Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to (GABRD)
• Epilepsy, idiopathic generalized, 10} (GABRD)
• Epilepsy, juvenile myoclonic, susceptibility to (GABRD)
• Epileptic encephalopathy, early infantile, 11 (SCN2A)
• Epileptic encephalopathy, early infantile, 4 (STXBP1)
• Epileptic encephalopathy, early infantile, 52 (SCN1B)
• Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
• Epileptic encephalopathy, early infantile, 74 (GABRG2)
• Epileptic encephalopathy, early infantile, 9 (GABRG2)
• Episodic ataxia, type 9 (SCN2A)
• Febrile seizures, familial, 11 (CPA6)
• Febrile seizures, familial, 3A (SCN1A)
• Febrile seizures, familial, 3B (SCN9A)
• Febrile seizures, familial, 8 (GABRG2)
• Generalized epilepsy with febrile seizures plus, type 10 (HCN1)
• Generalized epilepsy with febrile seizures plus, type 7 (SCN9A)
• Genetic epilepsy with febrile seizures plus [panelapp] (SLC32A1)
• Glycosylphosphatidylinositol biosynthesis defect 17 (PIGH)
• Intractable childhood epilepsy with generalized tonic-clonic seizures
• Migraine, familial hemiplegic, 3 (SCN1A)
• Seizures, benign familial infantile, 3 (SCN2A)