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IllnessLafora syndrome, differential diagnosis

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Summary

Short information

Comprehensive differential diagnostic panel for Lafora syndrome containing 2 guideline-curated core genes as well as 7 additional or altogether 31 curated genes according to the clinical signs

ID
LP0010
Number of genes
27 Accredited laboratory test
Examined sequence length
11,4 kb (Core-/Core-canditate-Genes)
52,5 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS + X

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GReferenz-Seq.Heredity
EFHC11923NM_018100.4AD
EPM2A996NM_005670.4AR
GOSR2639NM_004287.5AR
KCNC11758NM_001112741.2AD
KCTD7870NM_153033.5AR
NHLRC11188NM_198586.3AR
PRICKLE12496NM_153026.3AR
SCARB21437NM_005506.4AR
ADRA2B1344NM_000682.7AR
ASAH11188NM_177924.5AR
CLCN22697NM_004366.6AR
CNTN23123NM_005076.5AR
CSNK2B665NM_001320.7AD
CUX24461NM_015267.4AD
D2HGDH1566NM_152783.5AR
GABRA11371NM_000806.5AD
GABRD1359NM_000815.5AD
GRIA22652NM_001083619.3AD
HEXB1671NM_000521.4AR
LMNB21863NM_032737.4AR
NEU11248NM_000434.4AR
PIGU1426NM_080476.5AR
PLA2G62421NM_003560.4AR
SEMA6B2701NM_032108.4AD
SETD1B5917NM_001353345.2AD
SLC6A11800NM_003042.4AD
TBC1D241680NM_001199107.2AR

Informations about the disease

Clinical Comment

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.

 

Synonyms
  • 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)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code

Bioinformatics and clinical interpretation

No text defined