IllnessEpilepsie, generalisierte idiopathische, Erwachsene; Differentialdiagnose

NGS +

Generalized idiopathic epilepsies or genetic generalized epilepsies are a group of syndromes characterized by seizures with non-focal mechanisms of onset such as absences, myoclonic or primary generalized tonic-clonic seizures and typical EEG findings (generalized spike-wave discharges provoked by hyperventilation or light stimulation). There is diffuse cortical and subcortical hyperexcitability, particularly in thalamocortical circuits. These forms of epilepsy occur in otherwise healthy individuals with no apparent cause (other than a genetic predisposition). Most of these syndromes begin in childhood, some as late as adulthood. The most common IGE syndromes are childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and isolated generalized epilepsy with generalized tonic-clonic seizures. The molecular genetic causes underlying these epilepsy syndromes are only slowly becoming increasingly well characterized, and the mode of inheritance is often autosomal dominant, rarely recessive or X-linked. The DNA diagnostic yield is little over 5% in this category, so that inconspicuous genetic findings do not mean any exclusion of the clinical suspected diagnoses.

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

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369901/

• Alias: Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
• Allelic: Achondroplasia (FGFR3)
• Allelic: Atrial fibrillation, familial, 13 (SCN1B)
• Allelic: Brugada syndrome 5 (SCN1B)
• Allelic: CATSHL syndrome (FGFR3)
• Allelic: Cardiac conduction defect, nonspecific (SCN1B)
• Allelic: Charcot-Marie-Tooth disease, axonal, type 20 (DYNC1H1)
• Allelic: Crouzon syndrome with acanthosis nigricans (FGFR3)
• Allelic: DOORS [deafness, onychodystr., osteodystr., MR, seizures] syndrome (TBC1D24)
• Allelic: Developmental and epileptic encephalopathy 34 (SLC12A5)
• Allelic: Dystonia 9 (SLC2A1)
• Allelic: Epilepsy, familial temporal lobe, 5 (CPA6)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to (GABRD)
• Allelic: Epilepsy, juvenile myoclonic, susceptibility to, 6 (CACNB4)
• Allelic: Epilepsy, rolandic, with paroxysmal exercise-induce dystonia and writer's cramp (TBC1D24)
• Allelic: Episodic ataxia, type 2 (CACNA1A)
• Allelic: Episodic ataxia, type 5 (CACNB4)
• Allelic: Episodic ataxia, type 9 (SCN2A)
• Allelic: Erythermalgia, primary (SCN9A)
• Allelic: Generalized epilepsy with febrile seizures plus, type 5, susceptibility to (GABRD)
• Allelic: Hypochondroplasia (FGFR3)
• Allelic: Insensitivity to pain, congenital (SCN9A)
• Allelic: LADD syndrome (FGFR3)
• Allelic: Lymphangioleiomyomatosis (TSC1)
• Allelic: Muenke syndrome (FGFR3)
• Allelic: Neuropathy, hereditary sensory and autonomic, type IID (SCN9A)
• Allelic: Paroxysmal extreme pain disorder (SCN9A)
• Allelic: Seizures, benign familial infantile, 3 (SCN2A)
• Allelic: Small fiber neuropathy (SCN9A)
• Allelic: Spinal muscular atrophy, lower extremity-predominant 1, AD (DYNC1H1)
• Allelic: Spinocerebellar ataxia 6 (CACNA1A)
• Cerebellar atrophy, developmental delay, seizures (KCNMA1)
• Ceroid lipofuscinosis, neuronal, 4, Parry type (DNAJC5)
• Cornelia de Lange syndrome 2 (SMC1A)
• D-2-hydroxyglutaric aciduria (D2HGDH)
• Deafness, autosomal dominant 65 616044 AD 3
• Deafness, autosomal recessive 86 614617 AR 3
• Developmental + epileptic encephalopathy 11 (SCN2A)
• Developmental + epileptic encephalopathy 14 (KCNT1)
• Developmental + epileptic encephalopathy 16 (TBC1D24)
• Developmental + epileptic encephalopathy 19 (GABRA1)
• Developmental + epileptic encephalopathy 24 (HCN1)
• Developmental + epileptic encephalopathy 26 (KCNB1)
• Developmental + epileptic encephalopathy 4 (STXBP1)
• Developmental + epileptic encephalopathy 42 (CACNA1A)
• Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
• Developmental + epileptic encephalopathy 94 (CHD2)
• Epilepsy nocturnal frontal lobe, 5 (KCNT1)
• Epilepsy, childhood absence, susceptibility to, 4 (GABRA1)
• 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 7 (SCN9A)
• Epilepsy, idiopathic generalized, 10 (GABRD)
• Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Epilepsy, idiopathic generalized, susceptibility to, 14 (SLC12A5)
• Epilepsy, idiopathic generalized, susceptibility to, 15 (RORB)
• Epilepsy, idiopathic generalized, susceptibility to, 16 (KCNMA1)
• Epilepsy, idiopathic generalized, susceptibility to, 17 (HCN2)
• Epilepsy, idiopathic generalized, susceptibility to, 9 (CACNB4)
• Epilepsy, juvenile myoclonic, susceptibility to, 5 (GABRA1)
• Epileptic encephalopathy, early infantile, 52 (SCN1B)
• Epileptic encephalopathy, early infantile, 6 [Dravet syndrome] (SCN1A)
• Epileptic encephalopathy, early infantile, 7 (KCNQ2)
• Epileptic encephalopathy, early infantile, 74 (GABRG2)
• Febrile seizures, familial, 11 (CPA6)
• Febrile seizures, familial, 2 (HCN2)
• Febrile seizures, familial, 3A (SCN1A)
• Febrile seizures, familial, 8 (GABRG2)
• Focal cortical dysplasia, type II, somatic (TSC1)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Generalized epilepsy with febrile seizures plus, type 10 (HCN1)
• Generalized epilepsy with febrile seizures plus, type 11 (HCN2)
• Generalized epilepsy with febrile seizures plus, type 9 (STX1B)
• Intellectual developmental disorder, XL syndromic 34 (NONO)
• KBG syndrome (ANKRD11)
• Kufs Disease, AD (DNAJC5)
• Liang-Wang syndrome (KCNMA1)
• Lissencephaly 1 (PAFAH1B1)
• Lissencephaly, XL (DCX)
• Megalencephalic leukoencephalopathy with subcortical cysts (MLC1)
• Mental retardation, AD 1 (MBD5)
• Mental retardation, AD 13 (DYNC1H1)
• Mental retardation, AD 31 (PURA)
• Mental retardation, AR 41 (KPTN)
• Migraine, familial hemiplegic, 1 (CACNA1A)
• Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia (CACNA1A)
• Migraine, familial hemiplegic, 3 (SCN1A)
• Myoclonic epilepsy, infantile, familial (TBC1D24)
• Myokymia Seizures, benign neonatal, 1 (KCNQ2)
• Paroxysmal nonkinesigenic dyskinesia, 3, with/-out generalized epilepsy (KCNMA1)
• SADDAN (FGFR3)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
• Subcortical laminal heterotopia, XL (DCX)
• Subcortical laminar heterotopia (PAFAH1B1)
• Succinic semialdehyde dehydrogenase deficiency (ALDH5A1)
• Tuberous sclerosis-1 (TSC1)