Generalized epilepsies of neonates and infancy |
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| ARX, CDKL5, STXBP1, PLB1, KCNQ2 | ARX, CDKL5: X-linked dominant STXBP1: autosomal dominant PLB1: autosomal recessive KCNQ2: autosomal dominant | |
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| Type 1: SCN1B Type 2: SCN1A Type 3: GABRG2 Other: SCN2A GABRD | | SCN1B, GABRG2, GARBD, SCN2A: sequence analysis SCN1A: sequence and deletion/duplication analysis PCDH19: sequence and deletion/duplication analysis |
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| | | SCN1A: sequence and deletion/duplication analysis SCN1B: sequence analysis SLC2A1: sequence and deletion/duplication analysis GABRG2: sequence analysis |
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| GABRG2, GABRA1 (CAE with JME), SLC2A1 (early onset), GABRB3 (Austrian), CACNA1H (Chinese), CACNG3, LG14 | | |
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| (4q13.2–q21.3), (7p21.3), (1q25 and 18q, digenic), (12q22–q23.3) | | |
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| SHH, PTCH1, ZIC2, SIX3, TGIF | | |
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| PEX1, PXMP3 (PEX2), PEX3, PEX5, PEX6, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX26, | | |
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| PMM2 FCMD POMT1, POMT2 MEB | | PMM2: sequence analysisFCMO: targeted mutation analysis, sequence analysisPOMT1: sequence analysis All others: sequence analysis |
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| PPT1, TPP1, CLN3, CLN5, CLN6, CLN7/MFSD8, CLN8, CTSD | | PPT1, TPP1, CLN3, CLN8: targeted mutation and sequence analysis CLN5: targeted mutation analysis, sequence and deletion/duplication anaylysis CLN6, CLN7/MFSD8, CTSD: sequence analysis |
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POLG-related disorders (includes Alpers–Huttenlocher syndrome, progressive external ophthalmoplegia, myoclonic epilepsy myopathy sensory ataxia, POLG-related ataxia neuropathy spectrum disorders) | | | |
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| ELN, LIMK1, GTF21, STX1A, BAZ1B, CYLN2, GTF21RD1, NCF1 | | |
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