IllnessLafora syndrome, differential diagnosis
Summary
Comprehensive differential diagnostic panel for Lafora syndrome comprising 2 guideline-curated genes as well as 7 additional or altogether 31 curated genes according to the clinical signs
52,5 kb (Extended panel: incl. additional genes)
- EDTA-anticoagulated blood (3-5 ml)
NGS + X
Gene panel
Selected genes
Name | Exon Length (bp) | OMIM-G | Referenz-Seq. | Heredity |
---|---|---|---|---|
EFHC1 | 1923 | NM_018100.4 | AD | |
EPM2A | 996 | NM_005670.4 | AR | |
GOSR2 | 639 | NM_004287.5 | AR | |
KCNC1 | 1758 | NM_001112741.2 | AD | |
KCTD7 | 870 | NM_153033.5 | AR | |
NHLRC1 | 1188 | NM_198586.3 | AR | |
PRICKLE1 | 2496 | NM_153026.3 | AR | |
SCARB2 | 1437 | NM_005506.4 | AR | |
ADRA2B | 1344 | NM_000682.7 | AR | |
ASAH1 | 1188 | NM_177924.5 | AR | |
CLCN2 | 2697 | NM_004366.6 | AR | |
CNTN2 | 3123 | NM_005076.5 | AR | |
CSNK2B | 665 | NM_001320.7 | AD | |
CUX2 | 4461 | NM_015267.4 | AD | |
D2HGDH | 1566 | NM_152783.5 | AR | |
GABRA1 | 1371 | NM_000806.5 | AD | |
GABRD | 1359 | NM_000815.5 | AD | |
GRIA2 | 2652 | NM_001083619.3 | AD | |
HEXB | 1671 | NM_000521.4 | AR | |
LMNB2 | 1863 | NM_032737.4 | AR | |
NEU1 | 1248 | NM_000434.4 | AR | |
PIGU | 1426 | NM_080476.5 | AR | |
PLA2G6 | 2421 | NM_003560.4 | AR | |
SEMA6B | 2701 | NM_032108.4 | AD | |
SETD1B | 5917 | NM_001353345.2 | AD | |
SLC6A1 | 1800 | NM_003042.4 | AD | |
TBC1D24 | 1680 | NM_001199107.2 | AR |
Informations about the disease
Severe, progressive myoclonic epilepsy characterized by myoclonus and/or generalized seizures, visual hallucinations (partial occipital seizures), progressive neurological decline
Leitlinie: Diagnostische Prinzipien bei Epilepsien des Kindesalters; S1; From: 18.12.2017, valid until 17.12.2022; Gesellschaft für Neuropädiatrie (GNP): "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.." However GRIN2A, KCNT1, KCNQ2, KCNQ3, SCN1A genes explicitly mentioned.
- 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)
- AD
- AR
- Multiple OMIM-Ps
Bioinformatics and clinical interpretation
No text defined