Neurology / Neuropediatrics
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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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Epilepsy, progressive myoclonic 3 (sequence analysis of KCTD7 gene)
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Epilepsy, progressive myoclonic 4, with or without renal failure (sequence analysis of SCARB2 gene)
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Epilepsy, pyridoxine-dependent (deletion/duplication analysis on ALDH7A1 gene)
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Epilepsy, pyridoxine-dependent (sequence analysis of ALDH7A1 gene)
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Epilepsy, X-linked, with learning disabilities and behavior disorders (sequence analysis of SYN1 gene)
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Epileptic encephalopathy (WES based NGS panel for 137 genes, including CNV analysis)
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Epileptic encephalopathy, childhood-onset (sequence analysis of CHD2 gene)
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Epileptic encephalopathy, early infantile 11 | Benign familial neonatal-infantile seizures (deletion/duplication analysis on SCN2A gene)
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Epileptic encephalopathy, early infantile 2 (sequence analysis of KCNQ3 gene)
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Epileptic encephalopathy, early infantile 60 (sequence analysis of CNPY3)
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Epileptic encephalopathy, early infantile 9 (EIEE9, deletion/duplication analysis on PCDH19 gene)
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