关键词: absent speech action tremor appendicular hypotonia blepharospasm broad forehead bulbar palsy developmental regression developmental stagnation at onset of seizures dysphagia epileptic encephalopathy exaggerated startle response failure to thrive in infancy full cheeks gastroesophageal reflux gastrostomy tube feeding in infancy generalized tonic seizures generalized tonic-clonic seizures on awakening gingival overgrowth hypoxemia infantile axial hypotonia intellectual disability, severe neck muscle weakness no social interaction obstructive sleep apnea respiratory difficulties
Mesh : Child, Preschool Developmental Disabilities / complications genetics Epilepsy / complications Female Humans Mutation, Missense / genetics NAV1.6 Voltage-Gated Sodium Channel / genetics metabolism Seizures / complications genetics Sequence Analysis, DNA Whole Exome Sequencing / methods
来 源:
DOI:10.1101/mcs.a001073
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