Gln860*) present in a hemizygous state in a 3-year-old boy, and a potential splice site variant c.463+5G>A in heterozygous state in a 5-year-old girl. [ncbi.nlm.nih.gov]

• Developmental Delay

  We report here a 4-year-old boy presenting with profound developmental delay, non-syndromic epileptic encephalopathy, and early brain atrophy. [ncbi.nlm.nih.gov]

• Pathologist

  CMDL is certified under the Clinical Laboratory Improvements Amendments of 1988 (CLIA ’88, ID No. 05D0665695), licensed by the State of California (CLF 268), and accredited by the College of American Pathologists (CAP). [mdl.cityofhope.org]

• Encephalopathy

  […] with epileptic encephalopathy. [ncbi.nlm.nih.gov]

• Atonic Seizures

  Multiple seizure types occurred including tonic-clonic (26), tonic (4), partial (11), absence (5), atonic (3) and myoclonic (4). Seizures ceased at mean 12 years. [dx.doi.org]

There are numerous causes for EOEEs making the diagnostic workup time consuming and costly. [ncbi.nlm.nih.gov]

CONCLUSIONS: Continuous oral dexamethasone treatment is an effective and tolerable therapy and should be an option for the treatment of CSWS. Copyright © 2015 Elsevier Inc. All rights reserved. [ncbi.nlm.nih.gov]

Nonetheless, considerable overlap exists between the two syndromes in terms of clinical presentation, prognosis, and electroencephalographic signature. [ncbi.nlm.nih.gov]

What is the prognosis? The course of Ohtahara syndrome is severely progressive. Seizures become more frequent, accompanied by physical and mental retardation. Some children will die in infancy; others will survive but be profoundly handicapped. [web.archive.org]

The present study analyzed the etiology, demographics, and pathogenesis of patients with electrical status epilepticus during sleep to provide information on the diagnosis and therapy of this syndrome. [ncbi.nlm.nih.gov]

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]

However, the precise pathophysiology of STXBP1 haploinsufficiency has not been elucidated. [ncbi.nlm.nih.gov]

Citing Literature Number of times cited according to CrossRef: 33 Laura Gerosa, Maura Francolini, Silvia Bassani and Maria Passafaro, The Role of Protocadherin 19 (PCDH19) in Neurodevelopment and in the Pathophysiology of Early Infantile Epileptic Encephalopathy [oadoi.org]

Over weeks phenytoin was successfully switched to carbamazepine to prevent seizure relapses associated with difficulty in maintaining proper blood levels of phenytoin. Genetic analysis identified a novel de novo heterozygous mutation (c.[4633A>G]p. [ncbi.nlm.nih.gov]