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Developmental and Epileptic Encephalopathy Type 1
ISSX1

Presentation

Burst suppression is present in EEG tests during both wakefulness and sleep. EEG tests can help in diagnosing infantile spasms and rule out other types of infantile seizures. [news-medical.net]

Workup

EEG

  • Hypsarrhythmia

    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]

Treatment

Treatment There is currently no cure for EIEE. Patients with EIEE require constant supervision. [news-medical.net]

Congenital Myasthenic Syndromes: a Clinical and Treatment Approach. Current treatment options in neurology, 20(9), 36. https://doi.org/10.1007/s11940-018-0520-7 Rodríguez Cruz, P. M., Palace, J., & Beeson, D. (2018). [igenomix.es]

Prognosis

Prognosis Early mortality is common in children severely affected by EIEE, often due to seizures, chest infections and pneumonia. Due to recurring seizures, children experience developmental regression and lose skills they have learned. [news-medical.net]

Etiology

Arthrogryposis (multiple congenital contractures): Diagnostic approach to etiology, classification, genetics, and general principles. European Journal of Medical Genetics, 57(8), 464-472. doi:10.1016/j.ejmg.2014.03.008 Solicitar información [igenomix.es]

Epidemiology

Epidemiology EIEE was first identified in 1978. I t affects 1 to 1.6 in 100,000 individuals worldwide and is considered a very rare condition. This number includes types of spasms other than those seen in EIEE. [news-medical.net]

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