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

Acronym EIEE19 Keywords Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

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

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]

Microcephaly may occur along with changes on brain MRI, and dysphagia or other feeding difficulties may be present. [ggc.org]

• Pneumonia

  Early death is a risk in these conditions with the most frequent causes being pneumonia or other respiratory compromise or Sudden Unexpected Death in Epilepsy (SUDEP). [ggc.org]

  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]

  Death is often due to strain from seizure activity, pneumonia or other complications from motor disabilities.[8] Prospects of recovering from OS after hemispherectomy surgery has been shown to be favorable, with patients experiencing "catch up" in development [en.wikipedia.org]

  After ab ingestis pneumonia, percutaneous endoscopic gastrostomy was performed at age 7 months. Recurrent respiratory infections prompted frequent hospitalizations with oxygen therapy or continuous positive airway pressure support. [ng.neurology.org]

• Failure to Thrive

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micropenis Short penis Small [rarediseases.info.nih.gov]

• Small Head

  […] skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micropenis Short penis Small penis [ more ] 0000054 Precocious puberty Early onset of puberty Early puberty [ more ] [rarediseases.info.nih.gov]

• Focal Seizure

  Infants have primarily tonic seizures (stiffening of the muscles, upward eye gaze, dilated pupils, and altered breathing), but may also experience focal seizures (involving only one area or side of the brain), and rarely, myoclonic seizures (involving [ninds.nih.gov]

  Seizures are the presenting symptom in 80% children and neuropsychological deterioration in the rest. The children present with infrequent, nocturnal seizures (simple or complex focal, generalized tonic-clonic or myoclonic seizures). [hindawi.com]

  Generalized tonic seizures (TS), tonic-clonic seizures (GTCS) or focal seizures with SG occurring in clusters with or without fever sensitivity are the common seizure types. [bmcmedgenet.biomedcentral.com]

  In addition, epilepsy-related surgery may be helpful in children with localized/focal seizures. [centogene.com]

  […] a case report. 61 Kava MP...Balasubramaniam S 30108280 2019 11 Genetics of neonatal onset epilepsies: An overview. 61 Milh M...Denis J 31097300 2019 12 Different types of suppression-burst patterns in patients with epilepsy of infancy with migrating focal [malacards.org]

• Ataxia

  […] apraxia; MCSZ – Microcephaly seizures and developmental delay; GEFSP – Generalized epilepsy with febrile seizures plus; CIAT – Cognitive impairment with or without cerebellar ataxia; SFN - Small fiber neuropathy; CIP – Congenital insensitivity to pain [centogene.com]

  […] cause early infantile epileptic encephalopathy. 6 61 Saitsu H...Matsumoto N 18469812 2008 5 Movement disorder in GNAO1 encephalopathy associated with gain-of-function mutations. 6 Feng H...Neubig RR 28747448 2017 6 Mutations in PNKP cause recessive ataxia [malacards.org]

  Neurological signs include spasticity, movement disorders, dystonia, or ataxia. Microcephaly may occur along with changes on brain MRI, and dysphagia or other feeding difficulties may be present. [ggc.org]

  […] developmental milestones Mental deterioration in childhood [ more ] 0002376 Diffuse cerebral atrophy 0002506 Diffuse white matter abnormalities 0007204 Dyskinesia Disorder of involuntary muscle movements 0100660 EEG with spike-wave complexes 0010850 Episodic ataxia [rarediseases.info.nih.gov]

• Global Developmental Delay

  Related phenotypes are intellectual disability and global developmental delay Disease Ontology : 12 An early infantile epileptic encephalopathy that has material basis in heterozygous mutation in the GABRA1 gene on chromosome 5q34. [malacards.org]

  Individuals with a history of seizures and global developmental delay, but insufficient information to identify a specific phenotype, are designated as “unclassified developmental and epileptic encephalopathy.” [ng.neurology.org]

  Showing of 51 | Medical Terms Other Names Learn More: HPO ID 80%-99% of people have these symptoms Global developmental delay 0001263 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more [rarediseases.info.nih.gov]

• Dystonia

  Neurological signs include spasticity, movement disorders, dystonia, or ataxia. Microcephaly may occur along with changes on brain MRI, and dysphagia or other feeding difficulties may be present. [ggc.org]

  We found that of 10 patients (38%) with dystonia, 5 were positive for one of the 5 gene mutations (ARX, CDKL5, KCNQ2, SCN2A and STXBP1) and dystonia had not been highlighted as a key clinical feature for selecting genetic mutations for IEE. [journals.plos.org]

  […] the toes Wide toe bones 0010174 Cleft palate Cleft roof of mouth 0000175 Depressed nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Dystonia [rarediseases.info.nih.gov]

• Quadriplegia

  From the first months of life, the boy manifested ocular and limb dyskinesia, later progressing to spastic quadriplegia. [ng.neurology.org]

  For example, KCNQ2 mutations have been reported in benign familial neonatal seizures (BFNS) and in severe neonatal EE (NEE) with quadriplegia and Ohtahara syndrome [8–12]. [journals.plos.org]

  Dominant-negative mutations in α-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay. Am. J. Hum. Genet. 2010, 86, 881–891. [Google Scholar] [CrossRef] [PubMed] Figure 1. [mdpi.com]

  This event can be preceded by either normal psychomotor development or abnormal signs indicating preexisting encephalopathy such as hemiparesis, hemiplegia, spastic quadriplegia, diffuse hypotonia, and ataxia. [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]

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]

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

It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice. [uniprot.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]

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

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 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]

The etiology is diverse. [hindawi.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 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]

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

[…] due to strain from seizure activity, pneumonia or other complications from motor disabilities.[8] Prospects of recovering from OS after hemispherectomy surgery has been shown to be favorable, with patients experiencing "catch up" in development.[29] Epidemiology [en.wikipedia.org]

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

[…] malformations such as hemimegalencephaly, porencephaly, Aicardi syndrome, olivary-dentate dysplasia, agenesis of mamillary bodies, linear sebaceous nevus syndrome, cerebral dysgenesis, and focal cortical dysplasia have been noted as suspect causes.[9] Pathophysiology [en.wikipedia.org]

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]

“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]

[…] treatment for abnormal muscle tone, stomach or lung problems.[7] A ketogenic diet may be suggested for reduction of symptoms.[2] Should the child survive past the age of three, vagus nerve stimulation could be considered.[2] No recent findings allude to preventive [en.wikipedia.org]

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