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ErkrankungEpileptische Enzephalopathie, frühinfantil; Differentialdiagnose

Zusammenfassung

Kurzinformation

Umfassendes differentialdiagnostisches panel für Epileptische Enzephalopathie (frühinfantil) mit 8 bzw. 119 kuratierten Genen gemäß klinischer Verdachtsdiagnose

ID
EP0250
Anzahl Gene
118 Akkreditierte Untersuchung
Untersuchte Sequenzlänge
24,4 kb (Core-/Basis-Gene)
295,4 kb (Erweitertes Panel)
Analyse-Dauer
auf Anfrage
Material
  • EDTA-Blut (3-5 ml)
Diagnostische Hinweise

NGS +

[[Sanger]]

 

Genpanel

Ausgewählte Gene

NameExon-Länge (bp)OMIM-GErbgang
CDKL53093XLD
GABRG21404AD
KCNQ22619AD
POLG3720AD und/oder AR
SCN1A6030AD und/oder Dig
SCN2A6018AD und/oder Dig
SLC2A11479AD und/oder AR
AARS12927AD und/oder AR
ACTL6B1295AD und/oder AR
ALDH7A11620AR
ALG13417XLD
AMT1212AR
AP3B23249AR
ARHGEF91551XLR
ARV1816AR
ATP6V1A1868AD und/oder AR
ATRX7479XL und/oder SMu und/oder Impr
BRAT12466AR
BSCL21197AD und/oder AR
CACNA1A6786AD und/oder Ass
CACNA1E6813AD
CAD6774AR
CHD25487AD und/oder Impr
CNPY3837AR
CNTNAP23996AR
CUX24461AD
CYFIP24544AD
DENND5A3864AR
DHDDS900AD und/oder AR
DNM12595AD
DNM1L2211AD und/oder AR
DOCK76390AR
EARS21572AR
EEF1A21392AD
EHMT13897AD und/oder Impr
EIF2B21056AR
EIF2B31359AR
EIF2B41569AR
EIF2B52166AR
ETHE1765AR
FGF12848AD
FOXG11470AD
FRRS1L1035AR
GABBR22826AD
GABRA11371AD
GABRA21356AD und/oder Mult und/oder SMu
GABRA51389AD
GABRB31422AD
GAMT711AR
GNAO11065AD
GNB51062AR
GPHN2310AR
GRIN12817AD und/oder AR
GRIN2A4395AD
GRIN2B4455AD
GRIN2D4023AD
HCN12673AD
HEPACAM1251AD und/oder AR
HNRNPU2478AD
ITPA585AR
KCNA21500AD
KCNB12577AD
KCNJ101140AR und/oder Dig
KCNQ32619AD
KCNT13708AD
KCTD32448AR
MDH21017AR
MECP21461XL
MEF2C1422AD und/oder Mult
MFF1029AR
MLC11134AR
MOCS11158AR
MOCS2567AR
NECAP1828AR
NRXN14644AD und/oder AR
NTRK22517AD
PACS22743AD
PARS21428AR
PCDH193447XL
PHACTR11743AD
PHF61098XLR und/oder Impr
PIGA1455XLR
PIGB1699AR
PIGQ1746AR
PLCB13651AR
PNKP1566AR
PNPO786AR
PPP3CA1566AD
PTPN234911AR
RHOBTB22625AD
RNASET2771AR
ROGDI864AR
SCN1B657AD und/oder AR
SCN3A6003AD
SCN8A5943AD
SERPINI11233AD
SLC12A53351AD und/oder AR
SLC13A51707AR
SLC1A21725AD und/oder Ass
SLC25A122037AR
SLC25A22972AR
SLC35A21182XLD
SLC6A11800AD
SLC9A62010XLD
SPTAN17434AD
ST3GAL31128AR
STXBP11812AD
SYNGAP14032AD
SYNJ14839AR
SZT210128AR
TBC1D241680AD und/oder AR
TCF42016AD und/oder Mult
TRAK12862AR
UBA51255AR
UBE3A2559AD und/oder Mult
WWOX1245AR
YWHAG746AD
ZEB23645AD

Infos zur Erkrankung

Klinischer Kommentar

Frühkindliche epileptische Enzephalopathie (EIEE) ist eine Anfallserkrankung mit tonischen Krämpfen innerhalb der ersten drei Lebensmonate, entweder generalisiert oder lateralisiert unabhängig vom Schlafzyklus - manchmal hunderte Male täglich. Die Spasmen können in Clustern oder einzeln auftreten und bis zu 10 Sekunden andauern. Zusätzlich treten in einem Drittel der Fälle generalisierte tonisch-klonische und fokal-motorische Anfälle sowie Hemikonvulsionen auf. Die Säuglinge entwickeln sich nicht normal mit geistiger Behinderung und sterben oft früh. Nach dem 2. Lebensjahr treten schwere psychomotorische Defizite auf. EIEE kann sich zu einem West-Syndrom (nach 2-6 Monaten) und später zu einem Lennox-Gastaut-Syndrom entwickeln. Das EEG zeigt ein kontinuierliches Suppressions-Burst Muster, das aus Bursts von Spikes mit hoher Amplitude und Polyspikes besteht, die sich mit Perioden mit niedrigem Spannungsgrundrhythmus abwechseln. Im kranialen MRT fallen häufig strukturelle Anomalien auf. Die molekulargenetische Ausbeute hängt weitgehend von der klinischen Charakterisierung ab. Ein negatives DNA-Ergebnis schließt die klinische Diagnose nicht aus.

Referenz: https://pubmed.ncbi.nlm.nih.gov/29906699/

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 allerdings explizit erwähnt.

 

Synonyme
  • Alias: Dravet Syndrome
  • Alias: Early infantile epileptic encephalopathy, severe form of epilepsy
  • Alias: Early-Infantile Epileptic Encephalopathy
  • Allelic: Cutis laxa, AR, type IID (ATP6V1A)
  • Allelic: Deafness, AD 71 (DMXL2)
  • Allelic: Dystonia 9 (SLC2A1)
  • Allelic: Intellectual developmental disorder with severe speech and ambulation defects (ACTL6B)
  • Allelic: Intellectual developmental disorder, AR 12 (ST3GAL3)
  • Allelic: Migraine, familial hemiplegic, 3 (SCN1A)
  • Allelic: Polyendocrine-polyneuropathy syndrome (DMXL2)
  • Allelic: Progressive external ophthalmoplegia, AD 1 (POLG)
  • Allelic: Progressive external ophthalmoplegia, AR (POLG)
  • Allelic: Spinocerebellar ataxia, AR 24 (UBA5)
  • 3-methylglutaconic aciduria, type IX (TIMM50)
  • Borjeson-Forssman-Lehmann syndrome (PHF6)
  • Cornelia de Lange syndrome 2 (SMC1A)
  • Developmental + epileptic encephalopathy 1 (ARX)
  • Developmental + epileptic encephalopathy 1, Ohtahara syndrome (ARX1)
  • Developmental + epileptic encephalopathy 15 (ST3GAL3)
  • Developmental + epileptic encephalopathy 21 (NECAP1)
  • Developmental + epileptic encephalopathy 38 (ARV1)
  • Developmental + epileptic encephalopathy 44 (UBA5)
  • Developmental + epileptic encephalopathy 46 (GRIN2D)
  • Developmental + epileptic encephalopathy 47 (FGF12)
  • Developmental + epileptic encephalopathy 50 (CAD)
  • Developmental + epileptic encephalopathy 55 (PIGP)
  • Developmental + epileptic encephalopathy 56 (YWHAG)
  • Developmental + epileptic encephalopathy 57 (KCNT2)
  • Developmental + epileptic encephalopathy 64 (RHOBTB2)
  • Developmental + epileptic encephalopathy 65 (CYFIP2)
  • Developmental + epileptic encephalopathy 66 (PACS2)
  • Developmental + epileptic encephalopathy 69 (CACNA1E)
  • Developmental + epileptic encephalopathy 70 (PHACTR1)
  • Developmental + epileptic encephalopathy 73 (RNF13)
  • Developmental + epileptic encephalopathy 73 (SIK1)
  • Developmental + epileptic encephalopathy 76 (ACTL6B)
  • Developmental + epileptic encephalopathy 80 (PIGB)
  • Developmental + epileptic encephalopathy 81 (DMXL2)
  • Developmental + epileptic encephalopathy 82 (GOT2)
  • Developmental + epileptic encephalopathy 83 (UGP2)
  • Developmental + epileptic encephalopathy 84 (UGDH)
  • Developmental + epileptic encephalopathy 85, with/-out midline brain defects (SMC1A)
  • Developmental + epileptic encephalopathy 87 (CDK19)
  • Developmental + epileptic encephalopathy 90 (FGF13)
  • Developmental + epileptic encephalopathy 93 (ATP6V1A)
  • Epilepsy, childhood absence, susceptibility to, 2 (GABRG2)
  • Epilepsy, generalized, with febrile seizures plus, type 2 (SCN1A)
  • Epilepsy, generalized, with febrile seizures plus, type 3 (GABRG2)
  • Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
  • Epileptic encephalopathy, early infantile, 11 (SCN2A)
  • Epileptic encephalopathy, early infantile, 12 (PLCB1)
  • Epileptic encephalopathy, early infantile, 13 (SCN8A)
  • Epileptic encephalopathy, early infantile, 14 (KCNT1)
  • Epileptic encephalopathy, early infantile, 15 (ST3GAL3)
  • Epileptic encephalopathy, early infantile, 16 (TBC1D24)
  • Epileptic encephalopathy, early infantile, 17 (GNAO1)
  • Epileptic encephalopathy, early infantile, 18 (SZT2)
  • Epileptic encephalopathy, early infantile, 19 (GABRA1)
  • Epileptic encephalopathy, early infantile, 2 (CDKL5)
  • Epileptic encephalopathy, early infantile, 23 (DOCK7)
  • Epileptic encephalopathy, early infantile, 24 (HCN1)
  • Epileptic encephalopathy, early infantile, 25 (SLC13A5)
  • Epileptic encephalopathy, early infantile, 26 (KCNB1)
  • Epileptic encephalopathy, early infantile, 27 (GRIN2B)
  • Epileptic encephalopathy, early infantile, 28 (WWOX)
  • Epileptic encephalopathy, early infantile, 3 (SLC25A22)
  • Epileptic encephalopathy, early infantile, 31 /DNM1)
  • Epileptic encephalopathy, early infantile, 32 (KCNA2)
  • Epileptic encephalopathy, early infantile, 33 (EEF1A2)
  • Epileptic encephalopathy, early infantile, 34 (SLC12A5)
  • Epileptic encephalopathy, early infantile, 35 (ITPA)
  • Epileptic encephalopathy, early infantile, 36 (ALG13)
  • Epileptic encephalopathy, early infantile, 37 (FRRS1L)
  • Epileptic encephalopathy, early infantile, 38 (ARV1)
  • Epileptic encephalopathy, early infantile, 39 (SLC25A12)
  • Epileptic encephalopathy, early infantile, 4 (STXBP1)
  • Epileptic encephalopathy, early infantile, 41 (SLC1A2)
  • Epileptic encephalopathy, early infantile, 42 (CACNA1A)
  • Epileptic encephalopathy, early infantile, 43 (GABRB3)
  • Epileptic encephalopathy, early infantile, 44 (UBA5)
  • Epileptic encephalopathy, early infantile, 46 (GRIN2D)
  • Epileptic encephalopathy, early infantile, 48 (AP3B2)
  • Epileptic encephalopathy, early infantile, 49 (DENND5A)
  • Epileptic encephalopathy, early infantile, 5 (SPTAN)
  • Epileptic encephalopathy, early infantile, 50 (CAD)
  • Epileptic encephalopathy, early infantile, 51 (MDH2)
  • Epileptic encephalopathy, early infantile, 52 (SCN1B)
  • Epileptic encephalopathy, early infantile, 53 (SYNJ1)
  • Epileptic encephalopathy, early infantile, 54 (HNRNPU)
  • Epileptic encephalopathy, early infantile, 56 (YWHAG)
  • Epileptic encephalopathy, early infantile, 58 (NTRK2)
  • Epileptic encephalopathy, early infantile, 59 (GABBR2)
  • Epileptic encephalopathy, early infantile, 6, Dravet syndrome (SCN1A)
  • Epileptic encephalopathy, early infantile, 60 (CNPY3)
  • Epileptic encephalopathy, early infantile, 62 (SCN3A)
  • Epileptic encephalopathy, early infantile, 64 (RHOBTB2)
  • Epileptic encephalopathy, early infantile, 66 (PACS2)
  • Epileptic encephalopathy, early infantile, 67 (CUX2)
  • Epileptic encephalopathy, early infantile, 68 (TRAK1)
  • Epileptic encephalopathy, early infantile, 69 (CANA1E)
  • Epileptic encephalopathy, early infantile, 7 (KCNQ2)
  • Epileptic encephalopathy, early infantile, 70 (PHACTR1)
  • Epileptic encephalopathy, early infantile, 73 (GABRG2)
  • Epileptic encephalopathy, early infantile, 75 (PARS2)
  • Epileptic encephalopathy, early infantile, 76 (ACTL6B)
  • Epileptic encephalopathy, early infantile, 77 (PIGQ)
  • Epileptic encephalopathy, early infantile, 78 (GABRA2)
  • Epileptic encephalopathy, early infantile, 8 (ARHGEF9)
  • Epileptic encephalopathy, early infantile, 80 (PIGB)
  • Epileptic encephalopathy, early infantile, 9 (PCDH19)
  • Febrile seizures, familial, 3A (SCN1A)
  • Febrile seizures, familial, 8 (GABRG2)
  • Focal segmental glomerulosclerosis + neurodevelopmental syndrome (TRIM8)
  • GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
  • GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
  • Hydranencephaly with abnormal genitalia (ARX)
  • Intellectual developmental disorder, XL 29 (ARX)
  • Lissencephaly, XL 2 (ARX)
  • Mitochondrial DNA depletion syndrome 4A, Alpers type (POLG)
  • Mitochondrial DNA depletion syndrome 4B, MNGIE type (POLG)
  • Mitochondrial recessive ataxia syndrome, includes SANDO + SCAE (POLG)
  • Myokymia (KCNQ2)
  • Neurodevelopmental disorder with progressive microcephaly, spasticity, brain anom. (PLAA)
  • Partington syndrome (ARX)
  • Proud syndrome (ARX)
  • Seizures, benign familial infantile, 3 (SCN2A)
  • Seizures, benign neonatal, 1 (KCNQ2)
  • Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)
Erbgänge, Vererbungsmuster etc.
  • AD
  • AD und/oder AR
  • AD und/oder Ass
  • AD und/oder Dig
  • AD und/oder Impr
  • AD und/oder Mult
  • AD und/oder Mult und/oder SMu
  • AR
  • AR und/oder Dig
  • XL
  • XL und/oder SMu und/oder Impr
  • XLD
  • XLR
  • XLR und/oder Impr
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
G40.8

Bioinformatik und klinische Interpretation

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