Neurology / Neuropediatrics
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Emery-Dreifuss muscular dystrophy type 7, AD (sequence analysis of TMEM43 gene)
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Encephalomyopathy, mitochondrial (sequence analysis of MT-TL2 gene)
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Encephalopathy (deletion/duplication analysis on MECP2 gene)
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Encephalopathy lethal, due to defective mitochondrial peroxisomal fission (sequence analysis of DNM1L gene)
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Encephalopathy with neuroserpin inclusion bodies (sequence analysis of SERPINI1 gene)
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Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (deletion/duplication analysis of TRAPPC12 gene)
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Encephalopathy, progressive, early-onset, with brain atrophy and spasticity (sequence analysis of TRAPPC12 gene)
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Epidermolysis bullosa simplex with muscular dystrophy (deletion / duplication in the PLEC gene)
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Epilepsies (deletion/duplication on CHRNA4, CHRNB2, EPM2A, KCNQ1, KCNQ3 and NHLRC1 genes)
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Epilepsy (WES based NGS panel for 597 genes, including CNV analysis)
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Epilepsy familial temporal lobe 1 (sequence analysis of LGI1 gene)
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Epilepsy familial temporal lobe 5 (sequence analysis of CPA6 gene)
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Epilepsy with neurodevelopmental defects (deletion/duplication analysis of GRIN2A gene)
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Epilepsy with neurodevelopmental defects (sequence analysis of GRIN2A gene)
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Epilepsy, childhood absence type 5 (sequence analysis of GABRB3 gene)
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Epilepsy, childhood absence type 6 (sequence analysis of CACNA1H gene)
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Epilepsy, early-onset, vitamin B6-dependent (sequence analysis of PLPBP)
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Epilepsy, familial focal with variable foci (deletion/duplication analysis of DEPDC5 gene)
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Epilepsy, familial focal with variable foci (sequence analysis of DEPDC5 gene)
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Epilepsy, generalized with febrile seizures plus type 2 (deletion/duplication analysis on SCN1A gene)
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