Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene. Neuropediatrics. 2014;45(04):261-4. 8. [medscidiscovery.com]

Approximately 18% may have a poor cognitive outcome. [37] A family history of epilepsy and recurrent episodes of status epilepticus may portend a worse prognosis. [emedicine.medscape.com]

onset 0003623 Severe global developmental delay 0011344 Spastic paraplegia 0001258 Spastic tetraplegia 0002510 Status epilepticus Repeated seizures without recovery between them 0002133 Tremor 0001337 Variable expressivity 0003828 Showing of 24 Last [rarediseases.info.nih.gov]

A novel STXBP1 mutation causes focal seizures with neonatal onset. J Child Neurol. 2012;27:811–814. Google Scholar SAGE Journals ISI 57. Rickman, C, Medine, CN, Bergmann, A, Duncan, RR. [journals.sagepub.com]

paraplegia 0001258 Spastic tetraplegia 0002510 Status epilepticus Repeated seizures without recovery between them 0002133 Tremor 0001337 Variable expressivity 0003828 Showing of 24 Last updated: 3/1/2020 Making a diagnosis for a genetic or rare disease [rarediseases.info.nih.gov]

paraplegia 0 0 0 1 0 0 1 1 Spastic paraplegia 11, autosomal recessive 0 0 0 0 0 0 1 1 Spastic paraplegia 30, autosomal recessive; Hereditary sensory and autonomic neuropathy type IIC; Mental retardation, autosomal dominant 9 0 0 0 0 1 0 1 1 Spastic paraplegia [clinvarminer.genetics.utah.edu]

paraplegia 30, autosomal recessive KIF5C Cortical dysplasia, complex, with other brain malformations 2 LGI1 Epilepsy, familial temporal lobe, 1 LIAS Hyperglycinemia, lactic acidosis, and seizures MBD5 Mental retardation, autosomal dominant 1 MCCC1 3- [asperbio.com]

Other signs and symptoms may include intellectual disability, reduced muscle tone (hypotonia ), hypsarrhythmia (an irregular pattern seen on EEG ), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia. [rarediseases.info.nih.gov]

Patients 1, 2, 3, and 5 had hypsarrhythmia and/or suppression-burst pattern on EEG, and responded poorly to multiple anti-epileptic drugs. [journals.lww.com]

The EEG will show an irregular pattern of suppression-bursts, progressing to hypsarrhythmia. Burst suppression is present in EEG tests during both wakefulness and sleep. [news-medical.net]

Thus, EEG demonstrates primarily burst-suppression patterns in the neonatal period, hypsarrhythmia in infancy, and slow generalized spike-wave discharges (GSWDs) in early childhood. [hindawi.com]

EEG findings that have been correlated with cognitive problems include a high awake or sleep spike index and intermittent EEG slowing. [19, 39, 40, 41, 42, 43] However, further investigations are needed to clarify these relationships and better define [emedicine.medscape.com]