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Early Infantile Epileptic Encephalopathy 26

EIEE26


Presentation

  • 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]
  • 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]
  • 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]
Epilepsy
  • Langdon Chair of Pediatric Epilepsy at Northwestern University School of Medicine and Director, Children's Memorial Epilepsy Center at Children's Memorial Hospital.[books.google.com]
  • […] disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome (FXTAS); Lysosomal Storage Diseases; Psychiatric Disorders; Dominant Spinocerebellar Ataxias; Metabolic Disorders; Friedreich Ataxia; ALS; Dementia; Neuromuscular Disorders; Stroke; Epilepsy[books.google.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]
  • (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]
Recurrent Respiratory Infections
  • Respiratory Infections MRXSL 300260 Genetic Test Registry Mental Retardation, Autosomal Dominant 1 MRD1 156200 Genetic Test Registry Mental Retardation, Autosomal Dominant 18 MRD18 0 615074 Genetic Test Registry Mental Retardation, Autosomal Dominant[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]
  • With more than 80 chapters, Pellock’s Pediatric Epilepsy now contains a full discussion of the spectrum of epilepsy disorders, not just seizures.[books.google.com]
  • […] 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]
  • EEG of a 16-yr-old child with MR and tonic seizures, showing slow spike wave activity superimposed on a slow BG. 22. EEG of an 11-yr-old pt with LGS showing GPFA. 23. Tonic seizure in a patient with LGS. 24.[slideshare.net]
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]
  • With more than 80 chapters, Pellock’s Pediatric Epilepsy now contains a full discussion of the spectrum of epilepsy disorders, not just seizures.[books.google.com]
  • […] 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]
  • EEG of a 16-yr-old child with MR and tonic seizures, showing slow spike wave activity superimposed on a slow BG. 22. EEG of an 11-yr-old pt with LGS showing GPFA. 23. Tonic seizure in a patient with LGS. 24.[slideshare.net]
Dystonia
  • Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome (FXTAS); Lysosomal Storage Diseases; Psychiatric Disorders; Dominant Spinocerebellar Ataxias; Metabolic Disorders; Friedreich Ataxia; ALS; Dementia; Neuromuscular Disorders; Stroke; Epilepsy; and Dystonia[books.google.com]
  • 12 Dystonia-Parkinsonism, Rapid-Onset DYT12 RDP 128235 Genetic Test Registry Dystonia 9 Choreoathetosis, Kinesigenic, With Episodic Ataxia And Spasticity Choreoathetosis/Spasticity, Episodic CSE Choreoathetosis, Paroxysmal, With Episodic Ataxia DYT9[ukgtn.nhs.uk]
  • […] the gene were first described in patients with a severe, infantile-onset epileptic encephalopathy known as Ohtahara syndrome. 1 However, patients with a predominant motor disorder, characterized by infantile hypotonia developing into severe chorea and dystonia[neurology.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]
  • Some may also exhibit tremor, ataxia, or dystonia. The clinical presentation often evolves into West syndrome and Lennox-Gastaut syndrome.[invitae.com]
Ataxia
  • (FXTAS); Lysosomal Storage Diseases; Psychiatric Disorders; Dominant Spinocerebellar Ataxias; Metabolic Disorders; Friedreich Ataxia; ALS; Dementia; Neuromuscular Disorders; Stroke; Epilepsy; and Dystonia.[books.google.com]
  • Registry Alternating Hemiplegia Of Childhood 2 AHC2 614820 Genetic Test Registry Angelman Syndrome Angelman Syndrome Chromosome Region, Included Happy Puppet Syndrome AS ANCR 105830 Genetic Test Registry Cognitive Impairment With Or Without Cerebellar Ataxia[ukgtn.nhs.uk]
  • Some may also exhibit tremor, ataxia, or dystonia. The clinical presentation often evolves into West syndrome and Lennox-Gastaut syndrome.[invitae.com]
  • Trudeau et al. first reported a frame-shift mutation (c.5156_5157delCT, p.Pro1719fs) of SCN8A in a family with mental retardation and ataxia, but without epilepsy [ 11 ].[bmcmedgenet.biomedcentral.com]
  • Three obligate female carriers had hyperreflexia and the matriarch developed progressive spastic ataxia at age 49 years.[bio2rdf.org]
Tremor
  • Fogel Elsevier Health Sciences, 6 Nov 2013 - Medical - 281 pages 0 Reviews This issue of Neurologic Clinics features a review of clinical neurogenetics as it pertains to the following disorders: Huntington Disease; Autism/ASD;Fragile X Tremor Ataxia Syndrome[books.google.com]
  • Some may also exhibit tremor, ataxia, or dystonia. The clinical presentation often evolves into West syndrome and Lennox-Gastaut syndrome.[invitae.com]
  • STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients . Epilepsia 52 , 1820–1827 (2011). 36. Campbell, I. M ., Yatsenko, S. A ., Hixson, P ., Reimschisel, T ., Thomas, M . & Wilson, W . et al .[nature.com]
  • STXBP1 -related encephalopathy presenting as infantile spasms and generalized tremor in three patients. Epilepsia. 2011;52(10):1820–1827. pmid:21762454 View Article PubMed/NCBI Google Scholar 16.[journals.plos.org]

Workup

  • 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]
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]

Treatment

  • 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]
  • 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]
  • (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]
  • Management and treatment There is no cure for EIEE and patients require constant supervision and care.[orpha.net]

Prognosis

  • 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 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]
  • .  Poor prognosis with occ. early death. 3.  Neonates.  Early myoclonic encephalopathy.  Ohtahara syndrome.  Infancy.  West syndrome.  Dravet syndrome.  Childhood.  Myoclonic astatic epilepsy.  Epileptic encephalopathy with CSWS including Landau[slideshare.net]
  • […] infantile, 26 From UniProt : Epileptic encephalopathy, early infantile, 26 (EIEE26): A form of epileptic encephalopathy, a heterogeneous group of severe childhood onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis[ghr.nlm.nih.gov]
  • Neuropaediatrics 18 (Suppl 1 - Doose, WK - 1987 (Show Context) 2 Treatment and long-term prognosis of myoclonicastatic epilepsy of early childhood - Oguni, Tanaka, et al. - 2002 (Show Context) 2 Neuropsychological findings: myoclonic astatic epilepsy[citeseerx.ist.psu.edu]

Etiology

  • Etiology EIEE may be the result of different etiologies. Many cases have been associated with structural brain abnormalities.[orpha.net]
  • Malignant migrating partial seizures in infancy: an epilepsy syndrome of unknown etiology. Epilepsia. 2009 ; 50 Suppl 5 : 49 – 51. 14. Carranza Rojo, D, Hamiwka, L, McMahon, JM, et al.[cambridge.org]
  • The high rate (42%) of mutations suggested that genetic testing of this IEE panel of genes is recommended for cryptogenic IEE with no etiology identified.[journals.plos.org]
  • In contrast, frequent occurrence of familial cases suggested some kind of congenital metabolic disorder as the etiological factor in EME.[link.springer.com]

Epidemiology

  • From basic mechanisms and epidemiology, through diagnosis and therapy, to quality of life issues, the new edition of this established reference covers every aspect of childhood epilepsy and will continue to be the definitive core text for all professionals[books.google.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]
  • 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]
  • 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]
  • Finally, both the introductory primers of the genetic literacy series are out – Part 1 dealing with the building blocks including general concepts of epilepsy genetics and epidemiology and now Part 2 about the paradigm shifts that were introduced with[epilepsygenetics.net]
Sex distribution
Age distribution

Prevention

  • 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]

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