Neurology / Neuropediatrics

• Fabry disease (deletion/duplication analysis on GLA gene) + info
   
• Fabry disease (sequence analysis of GLA gene) + info
   
• Facial paresis, hereditary congenital, type 3 (sequence analysis of HOXB1 gene) + info
   
• Familial cerebral small vessel disease (NGS panel of 15 genes) + info
   
• Familial episodic pain syndrome, 1 (sequencing analysis of TRPA1 gene) + info
   
• Familial episodic pain syndrome, 2 (sequencing analysis of SCN10A gene) + info
   
• Familial episodic pain syndrome, 3 (sequencing analysis of SCN11A gene) + info
   
• Familial hemiplegic migraine type 1 (FHM1, sequence analysis of CACNA1A gene) + info
   
• Familial hemiplegic migraine type 2 (FHM2, sequence analysis of ATP1A2 gene) + info
   
• Familial hyperaldosteronism type II | Leukoencephalopathy with ataxia | Epilepsy, idiopathic generalized type 11 (sequence analysis of CLCN2 gene) + info
   
• Familial isolated pituitary adenoma (deletion/duplication analysis on AIP gene) + info
   
• Familial isolated pituitary adenoma (sequence analysis of AIP gene) + info
   
• Familial mediterranean fever (deletion/duplication analysis on MEFV gene) + info
   
• Familial mediterranean fever (sequence analysis of MEFV gene) + info
   
• Familial or sporadic hemiplegic migraine (deletion/duplication analysis on ATP1A2 gene) + info
   
• Familial spastic paraplegia type 3A (SPG3A, sequence analysis of ATL1 gene) + info
   
• Familial spastic paraplegia type 3A and 4 (SPG3A/SPG4, deletion/duplication analysis on ATL1 and SPAST genes) + info
   
• Familial spastic paraplegia type 4 (SPG4, sequence analysis of SPAST gene) + info
   
• Familial spastic paraplegia type 6 (SPG6, sequence analysis of NIPA1 gene) + info
   
• Familial transthyretin amyloidosis (Met30 mutation on TTR gene) + info
   

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