Acronym EIEE26 Keywords Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

Diagnosis [ edit ] The diagnosis is based on the clinical presentation and on typical electroencephalographic patterns. [19] Treatment [ edit ] Treatment outlook is poor. [en.wikipedia.org]

When seizures present in infancy, there are a number of potential causes that may need to be excluded before genetic testing is pursued. This often depends on the presentation and other clinical factors. [kcnq2cure.org]

I wonder what role non-coding RNAs play in the cases presented by Irimia et al., which is not touched upon. [epilepsygenetics.net]

Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth. [orpha.net]

• Epilepsy

  (Show Context) 1 A new generation of anticonvulsants for the treatment of epilepsy in children - Snead, Donner (Show Context) 1 Neonatal epilepsy syndromes and generalized epilepsy with febrile seizures plus (GEFS - Scheffer, Harkin, et al. [citeseerx.ist.psu.edu]

  epilepsy cases Myoclonic seizures - 2.2% Lennox-Gastaut syndrome - 1.5% LKS, Ohtahara syndrome, myoclonic astatic epilepsy, and ESES - 0.2% each Each of these childhood epilepsy syndromes has its own characteristic age of onset. [emedicine.medscape.com]

  Case 23 had unclassified epilepsy with a negative family history for seizures. FIGURE 2 Family pedigrees. A, Case 17 with unclassified epilepsy. B, Case 18 with benign familial infantile epilepsy. [pediatrics.aappublications.org]

• Encephalopathy

  encephalopathy type 26 (KCNB1) TEST DETAILS Cost of Early infantile epileptic encephalopathy type 26 (KCNB1) Test in India [dnalabsindia.com]

  […] epileptic encephalopathy 2 XLD 18 DNM1 602377 early infantile epileptic encephalopathy, 31 AD 7 DOCK7 615730 early infantile epileptic encephalopathy 23 AR 3 EEF1A2 602959 mental retardation- 38; early infantile epileptic encephalopathy type 33 AD 3 [centogene.com]

  Encephalopathie myoclonique neonatale. Rev EEG Neurophysiol 1978; 8: 99–101. Google Scholar 3. Aicardi J. Early myoclonic encephalopathy (neonatal myoclonic encephalopathy). In: Roger J, Bureau M, Dravet C et al eds. [link.springer.com]

  […] and Leigh-like syndrome AR 22 52 SIK1 Epileptic encephalopathy, early infantile AD 5 6 SLC12A5 Epileptic encephalopathy, early infantile AR 6 14 SLC13A5 Epileptic encephalopathy, early infantile AR 18 20 SLC19A3 Thiamine metabolism dysfunction syndrome [blueprintgenetics.com]

  308350 Genetic Test Registry Epileptic Encephalopathy, Early Infantile, 11 EIEE11 613721 Genetic Test Registry Epileptic Encephalopathy, Early Infantile, 12 EIEE12 613722 Genetic Test Registry Epileptic Encephalopathy, Early Infantile, 13 EIEE13 614558 [ukgtn.nhs.uk]

• Seizure

  Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. [uniprot.org]

  […] in infancy Multiple seizures daily at onset Seizure frequency decreases during early childhood Most patients become seizure-free by age 3 or 4 years Variable severity of seizures seen in family members and can be inherited Mutations may also occur de [kcnq2cure.org]

  Generally, patients had seizure onset within 6 months after birth [ 9 ]. The seizure semiology was variable, including focal seizures, clonic seizures, tonic-clonic seizures, epileptic spasms, myoclonic and absence seizures, etc. [ 9, 12 ]. [bmcmedgenet.biomedcentral.com]

  This new classification, shown in Table 1, is still controversial since it groups seizures into neonatal epileptic seizures, and non-epileptic seizures that are characterized by primitive motor patterns of the cerebral and medullar trunk(,). [jped.com.br]

  […] vaccination-related seizure onset and 19 (1.9%) had seizure onset before the reported vaccination-related seizure. [pediatrics.aappublications.org]

• Global Developmental Delay

  The clinical features included infant-onset refractory seizures of multiple types, diffuse slow-wave EEG with multifocal spikes, global developmental delay, and hypotonia. [docksci.com]

  All surviving children have global developmental delays. Some children may progress to West syndrome and Lennox-Gastaut syndrome. These 3 disorders are considered to be on a spectrum by some authors. [emedicine.medscape.com]

  Mercimek-Mahmutoglu et al. 48, conducted a retrospective cohort study of 110 patients with intractable epilepsy, global developmental delay, and cognitive dysfunction, Detection rate by targeted next-generation sequencing was 12.7% and SCN1A was the most [nature.com]

  The prognosis is very poor, with severe global developmental delay and a mortality rate of up to 50% during the first 2 years of life.[ 2 ] [ 6 ] [ 7 ] Functional cortico-subcortical de-afferentation from diffuse brain damage involving the brainstem and [thieme-connect.com]

  Tekgul et al studied only full-term infants and found post-neonatal epilepsy in 35.7% of infants with seizures and global developmental delay in 50.8%. 16 In our own cohort from the Department of Neonatology in Ljubljana, Slovenia, we found that 36 of [dovepress.com]

• Poor or Absent Speech

  EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. [uniprot.org]

  EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. {ECO:0000269|PubMed: 25164438, ECO:0000269|PubMed: 26477325, ECO:0000269|PubMed: 26503721 }. [web.expasy.org]

  EIEE26 patients CC manifest multiple types of seizures, delayed psychomotor CC development, poor or absent speech, hypotonia, hypsarrhythmia. CC {ECO:0000269|PubMed:25164438, ECO:0000269|PubMed:26477325, CC ECO:0000269|PubMed:26503721}. [myhits.isb-sib.ch]

• Apathy

  Seizures are often accompanied by other signs, such as apathy, hypotonia or hypertonia, absence of the Moro reflex, and bulbar signs, often presenting as difficulties in sucking and swallowing. 60 Although hypoxic-ischemic brain injury is often the etiologic [dovepress.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]

• Hypsarrhythmia

  EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. [uniprot.org]

   EEG - suppression–burst activity, which evolves into hypsarrhythmia,accentuated during sleep,persists for prolonged periods.  Inborn errors of metabolism mc causes.  >50% die within weeks or months. 6. [slideshare.net]

  [pubmed:6254446] Genetic study of infantile spasms with hypsarrhythmia. [pubmed:870317] Expansion of the ARX spectrum. [bio2rdf.org]

  The EEG shows a very disorganised pattern called ‘hypsarrhythmia’. The EEG is always abnormal in children with West syndrome but sometimes this abnormality is seen only during sleep. [epilepsy.org.uk]

  EIEE26 patients manifest multiple types of seizures, delayed psychomotor development, poor or absent speech, hypotonia, hypsarrhythmia. {ECO:0000269|PubMed: 25164438, ECO:0000269|PubMed: 26477325, ECO:0000269|PubMed: 26503721 }. [web.expasy.org]

• Spike-and-Slow-Waves

  […] paroxysms of polyspikes or spikes-slow waves.  Ictal EEG  Varies according to seizure type. 16. [slideshare.net]

  EEG at age of 8 months showed sharp and spike waves in the right frontal during sleeping period, and 3–4 Hz slow-wave complexes in the occipital region during awake period. Seizures attacked 1–2 times per day. [bmcmedgenet.biomedcentral.com]

Brand-new chapters in the drug and diet section cover perampanel, ezogabine, and lacosamide, while the existing chapters on major medical treatments have been comprehensively updated to reflect the latest trials and studies. [books.google.com]

(Show Context) 3 Surgical treatment of early-infantile epileptic encephalopathy with suppression-bursts associated with focal cortical dysplasia - Komaki, Sugai, et al. - 2001 (Show Context) 3 Practice parameter: medical treatment of infantile spasms. [citeseerx.ist.psu.edu]

Treatment The main treatments used are corticosteroids or vigabatrin (Sabril). Nitrazepam and sodium valproate (Epilim) may also be used. There are different types of steroid that can be used. [epilepsy.org.uk]

[…] or how the length of treatment impacts the outcome. [dovepress.com]

Definition A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. [uniprot.org]

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

There are many manifestations of epilepsy and, therefore, a diversity of factors in underlying pathology, responses to treatment and prognosis. [books.google.com]

Neonatal seizures are usually multifactorial, and their prognosis is strongly related to their etiology(). [jped.com.br]

Prognosis Prognosis is poor with death usually occurring in infancy (50% before age of 2). Survivors have severe psychomotor impairments with continuing seizures. The documents contained in this web site are presented for information purposes only. [orpha.net]

The etiology or associated disorders involve a wide series of neonatal diseases and metabolic disorders. Neonatal seizures are usually multifactorial, and their prognosis is strongly related to their etiology(). [jped.com.br]

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

Etiology EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities. [orpha.net]

Etiologic considerations Identification of the underlying etiology is also an important issue when considering appropriate management of neonatal seizures. [dovepress.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]

Particular updates include full coverage of new developments in epidemiology, genetics, classification, imaging, drug therapy and other treatments. [books.google.com]

Epidemiology of pyridoxine dependent and pyridoxine responsive seizures in the UK. Arch. Dis. Child. 1999; 81(5):431-3. PMID: 10519720 Trevathan, E, et al. The descriptive epidemiology of infantile spasms among Atlanta children. [invitae.com]

Relevant External Links for PCDH19 Genetic Association Database (GAD) PCDH19 Human Genome Epidemiology (HuGE) Navigator PCDH19 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PCDH19 No data available for Genatlas for PCDH19 Gene Epilepsy [genecards.org]

Summary Epidemiology Incidence has been estimated at 1/100 000 births in Japan and 1/50,000 births in the U.K. Clinical description Onset of EIEE occurs within the first 3 months of life but some present within the first few weeks after birth. [orpha.net]

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

Epilepsia 2010;51(4):699-702 Interesting paper giving some insight intothe pathophysiology of suppression-Burstpattern.20. Kato M, Saitoh S, Kamei A, et al. [docslide.com.br]

Polysomnographical assessment of the pathophysiology of West syndrome. Brain Dev. 2001;23(7):523-7.Hayashi M. Neuropathology of the limbic system and brainstem in West syndrome. [malattierare.regione.veneto.it]

Moreover, emphasis on pathophysiology reflects the increasing importance of personalized therapy in patients with epileptic encephalopathy. [thieme-connect.com]

Both mutants inhibited repetitive neuronal firing through preventing production of deep interspike voltages. [docksci.com]

However, currently, developed countries mainly use less reactogenic acellular pertussis vaccines. 26 Moreover, cancellation of vaccination increases the risk of a vaccine-preventable disease (eg, pertussis, measles). [pediatrics.aappublications.org]

The authors advised early and intensive monitoring during steroid therapy to prevent ocular damage and visual impairment. clinical synopsis ...linical-synopsis] Clinical synopsis for omim 308350 [omim_resource:308350_cs] genotype/phenotype...ype-correlations [bio2rdf.org]

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

It is also unclear if an adverse neurodevelopmental outcome, occurring as a consequence of seizures, can be prevented by currently available treatment. [dovepress.com]