Neurology / Neuropediatrics

• Neuropathy, hereditary sensory and autonomic type IC (HSNA1C, sequence analysis of SPTLC2 gene) + info
   
• Neuropathy, hereditary sensory type IE (sequence analysis of DNMT1 gene) + info
   
• Neutral lipid storage disease with myopathy (sequence analysis of PNPLA2 gene) + info
   
• Nicolaides-Baraitser syndrome (sequence analysis of SMARCA2 gene) + info
   
• Niemann-Pick disease (deletion/duplication analysis on NPC1, NPC2 and SMPD1 genes) + info
   
• Niemann-Pick disease (sequence analysis of NPC1 and NPC2 genes) + info
   
• Niemann-Pick disease type C1 (sequence analysis of NPC1 gene) + info
   
• Niemann-Pick disease type C2 (sequence analysis of NPC2 gene) + info
   
• Niemann-Pick disease types A and B (sequence analysis of SMPD1 gene) + info
   
• Nijmegen breakage syndrome (sequence analysis of NBN gene) + info
   
• Nijmegen breakage syndrome-like disorder (sequence analysis of RAD50 gene) + info
   
• Nocturnal frontal lobe epilepsy (NGS panel of 6 genes) + info
   
• Nocturnal frontal lobe epilepsy (sequence analysis of CHRNA2 gene) + info
   
• Nocturnal frontal lobe epilepsy (sequence analysis of CHRNA4 gene) + info
   
• Nocturnal frontal lobe epilepsy (sequence analysis of CHRNB2 gene) + info
   
• Nocturnal frontal lobe epilepsy type 4 (deletion/duplication analysis of CHRNA2 gene) + info
   
• Non-dystrophic myotonias and periodic paralysis (WES based NGS panel for 13 genes, including CNV analysis) + info
   
• Non-ketotic hyperglycinemia/glycine encephalopathy (deletion/duplication analysis of GLDC, AMT and GCSH genes) + info
   
• Non-syndromic intellectual disability, AR (sequence analysis of MAN1B1 gene) + info
   
• Nonaka distal myopathy (deletion/duplication analysis of GNE gene) + info
   

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