IllnessAbsence epilepsy, children + youths; differential diagnosis

NGS +

Absence epilepsies of the child (petit mal seizures) usually begin between the ages of 3-8 years with brief episodes of impaired consciousness that look like convulsions while the children are unaware of and unresponsive to environmental stimuli. The seizures usually last only seconds and occur very frequently each day. Most often, absence epilepsy resolves in adolescence, but it can persist into adulthood or develop into generalized tonic-clonic seizures. Absence epilepsies are often inherited in an autosomal dominant manner. The DNA diagnostic yield is approximately one-third in this category, so inconspicuous genetic findings do not rule out any of the suspected clinical diagnoses.

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

• Alias: Childhood Absence Epilepsy
• Allelic: Alcohol dependence, susceptibility to (GABRA2)
• Allelic: Dravet syndrome (SCN1A)
• Allelic: Dystonia 9 (SLC2A1)
• Allelic: Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
• Allelic: Epilepsy, generalized, with febrile seizures plus, type 3 (GABRG2)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 6 (CACNA1H)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 5 (GABRA1)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
• Allelic: Epileptic encephalopathy, early infantile, 19 (GABRA1)
• Allelic: Epileptic encephalopathy, early infantile, 74 (GABRG2)
• Allelic: Epileptic encephalopathy, early infantile, 78 (GABRA2)
• Allelic: Febrile seizures, familial, 3A (SCN1A)
• Allelic: Febrile seizures, familial, 8 (GABRG2)
• Allelic: Hyperaldosteronism, familial, type II (CLCN2)
• Allelic: Hyperaldosteronism, familial, type IV (CACNA1H)
• Allelic: Leukoencephalopathy with ataxia (CLCN2)
• Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
• Allelic: Myoclonic epilepsy, juvenile, susceptibility to, 1 (EFHC1)
• Allelic: Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Developmental + epileptic encephalopathy 4 (STXBP1)
• Epilepsy, childhood absence, susceptibility to, 4 (GABRA1)
• Epilepsy, childhood absence, susceptibility to, 6 (CACNA1H)
• Epilepsy, idiopathic generalized, susceptibility to, 15 (RORB)
• Epilepsy, juvenile absence, susceptibility to, 1 (EFHC1)
• Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
• Epilepsy, progressive myoclonic 2A [Lafora] (EPM2A)
• Epilepsy, progressive myoclonic 2B [Lafora] (NHLRC1)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Mental retardation, AD 7 (DYRK1A)
• Succinic semialdehyde dehydrogenase deficiency (ALDH5A1)