Epileptic encephalopathy/ severe delay panels GOSH (45 genes) Name ADSL ALG13 ARHGEF9 ARX ATP1A3 ATRX CDKL5 CHD2 CHRNA4 CHRNB2 CNTNAP2 EHMT1 FOXG1 GABRB3 GRIN2A GRIN2B KCNQ2 KCNT1 KIAA1279 LGI1 MAGI2 MBD5 MECP2 MEF2C NRXN1 PCDH19 PLCB1 PNKP POLG PRRT2 SCN1A SCN2A SCN8A SLC16A2 SLC25A22 SLC2A1 SLC9A6 SPTAN1 STXBP1 SYNGAP1 TBC1D24 TCF4 UBE2A UBE3A ZEB2 Inheritance AR AD XR XR AD XR X AD AD AD AR AD AD AD AD AD AD AD AR AD AD AD X AD AR XD AR AR AR AD AD AD AD XR AR AR XR AD AD AD AR AD XR AD (imprinted) AD Cardiff (31 genes) Adenylosuccinase deficiency CDG 1s; now, new EIEE EIEE 8 EIEE 1 Alternating hemi child/ CAPOS Alpha thalassemia X-linked MR EIEE 2 Childhood onset EE ADNFLE ADNFLE Pitt Hopkins like 1/ CDFE Kleefstra Congenital Rett Adjacent to UBE3A! LKS/CSWS/FESD West syndrome EIEE 7 EIEE 14 (MMPSI-~50%) Goldberg-Shprintzen?why ADPEAF Larger WBS deletion? 2q23.1 deletions Rett 5q14.3 del/ point mutations Pitt Hopkins like 2/ Hz ASD+MR EIEE 9 EIEE 12 EIEE 10 Mitochondrial PKD, BFIS EIEE 6/Dravet EIEE 11 EIEE 13 Allan-Herndon-Dudley EIEE 3 GLUT1DS XL Angelman (Christianson) EIEE 5 EIEE 4 New DDD gene DOORS/Epi/ EIEE 16 Pitt Hopkins XLMR syndromic Angelman Mowat Wilson Posted 150214, Abijit Dixit Gene ALDH7A1 Pyridoxine dependent ARHGEF9 ARX BTD Biotinidase CDKL5 CNTNAP2 FOXG1 GABRG2 GEFS+ GLUD1 HH??? KCNQ2 MAPK10 2 cases EE MECP2 MEF2C NRXN1 PCDH19 PLCB1 PNKP PNPO Pyridoxal phosphate POLG SCN1A SCN2A SCN9A GEFS+ SLC25A22 SLC2A1 SLC9A6 SPTAN1 SRGAP2 2 OMIM Tx STXBP1 TCF4 UBE3A ZEB2 Posted 150214, Abijit Dixit
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