Neurology / Neuropediatrics
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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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Epilepsy, generalized, with febrile seizures plus (sequence analysis of GABRG2 gene)
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Epilepsy, generalized, with febrile seizures plus, type 7 | Primary Erythromelalgia | Paroxysmal extreme pain disorder | Hereditary sensory and autonomic neuropathy type 2 (sequence analysis of SCN9A gene)
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Epilepsy, idiopathic generalized type 10 (sequence analysis of GABRD gene)
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Epilepsy, nocturnal frontal lobe (deletion/duplication analysis of CRH gene)
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Epilepsy, nocturnal frontal lobe 5 (sequence analysis of KCNT1 gene)
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Epilepsy, progressive myoclonic 1B (deletion/duplication analysis on PRICKLE1 gene)
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Epilepsy, progressive myoclonic 1B (sequence analysis of PRICKLE1 gene)
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Epilepsy, progressive myoclonic 2B (Lafora) (sequence analysis of NHLRC1 gene)
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