Klinische FragestellungLafora-Syndrom, Differentialdiagnose

NGS + X

Schwere, progressive myoklonische Epilepsie, gekennzeichnet durch Myoklonus und/oder generalisierte Anfälle, visuelle Halluzinationen (partielle okzipitale Anfälle), progressiven neurologischen Rückgang

Leitlinie: "Zwar haben die neuesten molekulargenetischen Befunde beigetragen, die Ursachen dieser häufigen idiopathischen Epilepsien etwas besser zu verstehen, doch ist eine routinemäßige genetische Diagnostik derzeit noch nicht sinnvoll." GRIN2A, KCNT1, KCNQ2, KCNQ3, SCN1A Gene explizit erwähnt.

• Alias: Lafora-Body-Epilepsie
• Alias: Myoclonic epilepsy of Lafora
• Alias: Progressive myoclonic epilepsy-2
• Alias: Progressive myoclonus epilepsy
• Allelic: DOORS syndrome (TBC1D24)
• Allelic: Deafness, AR 86 (TBC1D24); AD 65 (TBC1D24)
• Allelic: Hyperaldosteronism, familial, type II (CLCN2)
• Allelic: Infantile neuroaxonal dystrophy (PLA2G6)
• Allelic: Leukoencephalopathy with ataxia (CLCN2)
• Allelic: Lipodystrophy, partial, acquired, susceptibility to (LMNB2)
• Allelic: Parkinson disease 14, AR (PLA2G6)
• Allelic: Spinal muscular atrophy with progressive myoclonic epilepsy (ASAH1)
• D-2-hydroxyglutaric aciduria (D2HGDH)
• Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to (GABRD)
• Epilepsy, generalized, with febrile seizures plus, type 5, susceptibility to (GRIA2)
• Epilepsy, idiopathic generalized, 10 (GABRD)
• Epilepsy, idiopathic generalized, susceptibility to, 11 (CLCN2)
• Epilepsy, juvenile absence, susceptibility to, 1 (EFHC1)
• Epilepsy, juvenile absence, susceptibility to, 2 (CLCN2)
• Epilepsy, juvenile myoclonic, susceptibility to (GABRD)
• Epilepsy, juvenile myoclonic, susceptibility to, 8 (CLCN2)
• Epilepsy, myoclonic, familial adult, 5 (CNTN2)
• Epilepsy, progressive myoclonic 10 (PRDM8)
• Epilepsy, progressive myoclonic 11 (SEMA6B)
• Epilepsy, progressive myoclonic 12 (SLC7A6OS)
• Epilepsy, progressive myoclonic 1B (PRICKLE1)
• Epilepsy, progressive myoclonic 3 with/-out intracellular inclusions (KCTD7)
• Epilepsy, progressive myoclonic 4 with/-out renal failure (SCARB2)
• Epilepsy, progressive myoclonic 6 (GOSR2)
• Epilepsy, progressive myoclonic 7 (KCNC1)
• Epilepsy, progressive myoclonic 8 (CERS1)
• Epilepsy, progressive myoclonic 9 (LMNB2)
• Epilepsy, progressive myoclonic [Lafora] 2A (EPM2A), 2B (NHLRC1)
• Epilepsy, progressive myoclonic [Unverricht-Lundborg] 1A (CSTB, CSTB_CCCCGCCCCGCG)
• Epilepsy, rolandic, with proxysmal exercise-induce dystonia + writer's cramp (TBC1D24)
• Epileptic encephalopathy, early infantile, 16 (TBC1D24)
• Epileptic encephalopathy, early infantile, 19 (GABRA1)
• Epileptic encephalopathy, early infantile, 67 (CUX2)
• Intellectual developmental disorder with seizures + language delay (SETD1B)
• Myoclonic epilepsy, infantile, familial (TBC1D24)
• Myoclonic epilepsy, juvenile, susceptibility to, 1 (EFHC1)
• Myoclonic-atonic epilepsy (SLC6A1)
• Myoclonus Epilepsie Unverricht-Lundborg (CSTB repeat expansions, rarely other mutations)
• Neurodegeneration with brain iron accumulation 2B (PLA2G6)
• Neurodevelopmental disorder with brain anomalies, seizures + scoliosis (PIGU)
• Poirier-Bienvenu neurodevelopmental syndrome (CSNK2B)
• Sandhoff disease, infantile, juvenile + adult forms (HEXB)
• Sialidosis, type I-II (NEU1)