Klinische FragestellungApnoe, rekurrente episodische; Differentialdiagnose

NGS +

• Allelic: Epilepsy, idiopathic generalized, susceptibility to, 12 (SLC2A1)
• Allelic: Neuroblastoma with Hirschsprung disease (PHOX2B)
• Allelic: Neuroblastoma, susceptibility to, 2 (PHOX2B)
• Alternating hemiplegia of childhood 2 (ATP1A3)
• CAPOS syndrome (ATP1A3)
• Central hypoventilation syndrome, congenital, 1, +/- Hirschsprung disease (PHOX2B)
• Cognitive impairment with or without cerebellar ataxia (SCN8A)
• Convulsions, familial infantile, with paroxysmal choreoathetosis (PRRT2)
• Developmental and epileptic encephalopathy 11 (SCN2A)
• Developmental and epileptic encephalopathy 13 (SCN8A)
• Developmental and epileptic encephalopathy 14 (KCNT1)
• Developmental and epileptic encephalopathy 6B, non-Dravet (SCN1A)
• Developmental and epileptic encephalopathy 7 (KCNQ2)
• Developmental and epileptic encephalopathy 8 (ARHGEF9)
• Developmental and epileptic encephalopathy 99 (ATP1A3)
• Dravet syndrome (SCN1A)
• Dystonia 12 (ATP1A3)
• Dystonia 9 (SLC2A1)
• Epilepsy nocturnal frontal lobe, 5 (KCNT1)
• Episodic ataxia, type 9 (SCN2A)
• Episodic kinesigenic dyskinesia 1 (PRRT2)
• Erythermalgia, primary (SCN9A)
• Febrile seizures, familial, 3A (SCN1A)
• Fetal akinesia deformation sequence 2 (RAPSN)
• GLUT1 deficiency syndrome 1, infantile onset, severe (SLC2A1)
• GLUT1 deficiency syndrome 2, childhood onset (SLC2A1)
• Generalized epilepsy with febrile seizures plus, type 2 (SCN1A)
• Hyperekplexia 1 (GLRA1)
• Hyperekplexia 2 (GLRB)
• Hyperekplexia 3 (SLC6A5)
• Hyperkalemic periodic paralysis, type 2 (SCN4A)
• Insensitivity to pain, congenital (SCN9A)
• Migraine, familial hemiplegic, 3 (SCN1A)
• Molybdenum cofactor deficiency C (GPHN)
• Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (RAPSN)
• Myasthenic syndrome, congenital, 16 (SCN4A)
• Myasthenic syndrome, congenital, 4A, slow-channel (CHRNE)
• Myasthenic syndrome, congenital, 4B, fast-channel (CHRNE)
• Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency (CHRNE)
• Myasthenic syndrome, congenital, 6, presynaptic (CHAT)
• Myoclonus, familial, 2 (SCN8A)
• Myokymia (KCNQ2)
• Myotonia congenita, atypical, acetazolamide-responsive (SCN4A)
• Neuropathy, hereditary sensory and autonomic, type IID (SCN9A)
• Paramyotonia congenita (SCN4A)
• Paroxysmal extreme pain disorder (SCN9A)
• Seizures, benign familial infantile, 2 (PRRT2)
• Seizures, benign familial infantile, 3 (SCN2A)
• Seizures, benign familial infantile, 5 (SCN8A)
• Seizures, benign neonatal, 1 (KCNQ2)
• Seizures, benign neonatal, 2 (KCNQ3)
• Small fiber neuropathy (SCN9A)
• Stomatin-deficient cryohydrocytosis with neurologic defects (SLC2A1)