Loss of acquired skills in early childhood is present and natural disease course can be lethal in early childhood. Visit the Orphanet disease page for more resources. [malacards.org]

Additional Disease Information for PCDH19 Genes that share disorders with PCDH19: view No data available for Genatlas for PCDH19 Gene Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation [genecards.org]

If discharges are present only during sleep, this is termed sleep activation. [emedicine.medscape.com]

He receives language training and physical therapy at present. [bmcmedgenet.biomedcentral.com]

Nonfebrile seizures may also be present. [hindawi.com]

We identified 26 patients with Infantile Epileptic Encephalopathy (IEE) of unknown etiology despite extensive workup and without any specific epilepsy syndromic phenotypes. [journals.plos.org]

Diagnostic workup In early myoclonic encephalopathy, EEG is characterized by a "burst-suppression" pattern with bursts of spikes, sharp waves, and slow waves, which are irregularly intermingled and separated by periods of electrical silence. [intechopen.com]

An EEG is an essential part of the workup for LGS. Neuroimaging is an important part of the search for an underlying etiology. LGS can be classified according to its suspected etiology as either idiopathic or symptomatic. [hindawi.com]

• Generalized Spike-Wave Discharges

  Three patients had abnormal EEG with generalized spike-wave discharges or focal discharges. Brain MRI of 1 patient showed a calcified ependymal nodule in the left lateral ventricle. None had a family history of the disorder. [omim.org]

  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]

• Anisopoikilocytosis

  Orpha Number: 448010 Definition CAD-CDG is a rare congenital disorder of glycosylation caused by mutations in the CAD gene and characterized by epileptic encephalopathy, global developmental delay, normocytic anemia and anisopoikilocytosis. [malacards.org]

Treatment Antiseizure drugs are used to control seizures, but are unfortunately not usually very effective for this disorder. [ninds.nih.gov]

Evidence suggests that affected children can have a favorable response to treatment with uridine (summary by Koch et al., 2017). [malacards.org]

Neuropsychological assessments should be performed in order to gauge developmental progress and the effect of treatments over time. [emedicine.medscape.com]

Many children with epilepsy experience seizures which respond well to treatment. [childrenshospital.org]

Definition Treatment Prognosis Clinical Trials Organizations Publications Definition Ohtahara syndrome is an uncommon type of epilepsy characterized by hard to control seizures and developmental delays. [ninds.nih.gov]

Prognosis The prognosis is related to the underlying disorder. The severity of developmental impairment varies with the type of epilepsy. Early infantile epileptic encephalopathy (Ohtahara syndrome) The prognosis is very poor. [emedicine.medscape.com]

UniProtKB/Swiss-Prot : 73 Epileptic encephalopathy, early infantile, 35: A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis [malacards.org]

Prognosis Children have a poor prognosis, experiencing developmental regression, and eventual severe mental retardation. [intechopen.com]

The developmental prognosis partially depends on the etiology. When classified by etiology, normal development was described in 51% of cryptogenic cases versus only 6% of symptomatic cases. [emedicine.medscape.com]

Structural brain etiologies Genetic etiologies (STXBP1, SLC25A22, CDKL5, ARX, SPTAN1, PCDH19, KCNQ2, SCN2A and others) Metabolic etiologies (mitochondrial disorders, non-ketotic hyperglyinemia, pyridoxine/pyridoxal-5-phosphate disorders, carnitine palmitoyl [epilepsydiagnosis.org]

Etiology No clear etiology is found in approximately 40% of cases (Hrachovy, 2008 & Vigevano, 1992). [intechopen.com]

The etiology is diverse. [hindawi.com]

In epilepsy, copy number variations (CNVs) have been identified as an underlying etiology in some cases of generalized epilepsy with intellectual disability; focal epilepsies; juvenile myoclonic epilepsy; and epileptic encephalopathies. [connect.springerpub.com]

Epidemiology of epilepsy in childhood: a cohort of 440 consecutive patients. Pediatr Neurol. 1998 Jan. 18(1):46-50. [Medline]. Aicardi J, Ohtahara S. Severe neonatal epilepsies with suppression-burst pattern. [emedicine.medscape.com]

The descriptive epidemiology of infantile spasms among Atlanta children. Epilepsia. 1999; 40(6):748-51. PMID: 10368073 Baxter, P. Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch. Dis. Child. 1999; 81(5):431-3. [invitae.com]

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]

Epidemiology Early myoclonic encephalopathy is very rare. [intechopen.com]

The descriptive epidemiology of infantile spasms among Atlanta children. Epilepsia. 1999;40:748–751. Google Scholar Crossref Medline ISI 21. Commission on Classification and Terminology of the International League Against Epilepsy. [journals.sagepub.com]

Pathophysiology The epileptic encephalopathies are a group of age-specific epilepsy syndromes of diverse etiologies that share the potential for causing significant cognitive impairment. [emedicine.medscape.com]

Pathophysiology The underlying mechanisms of these disorders are still poorly understood. [intechopen.com]

“We can now identify the genetic cause of EIEE and select medications best suited to each patient to decrease the frequency of seizures earlier and hopefully prevent developmental delays.” [drugtargetreview.com]

It is also possible that understanding the genetic basis of early-onset epilepsies may in some instances make it possible to prevent it from occurring in the future. [childrenshospital.org]

Prevention No information is available. Genetic counseling might be helpful. 6.6. [intechopen.com]