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]

• Disability

  It is an extremely debilitating progressive neurological disorder, involving intractable seizures and severe intellectual disabilities. [en.wikipedia.org]

  Asn1877Ser) presented with drug resistant focal epilepsy and mild intellectual disability [ 15 ]. [bmcmedgenet.biomedcentral.com]

  Identification of a novel in-frame de novo mutation in SPTAN1 in intellectual disability and pontocerebellar atrophy. Eur. J. Hum. Genet. 20, 796–800 (2012). 24. Lemke, J. [nature.com]

  The main clinical features and signs of all epileptic encephalopathies are: Refractory seizures Severe EEG abnormalities Developmental delay/regression or intellectual disability. [centogene.com]

• Developmental Delay

  West syndrome or Infantile spasms (IS) is the most common type of EE and is characterized by a triad of symptoms: spasms, hypsarrhythmia, and developmental delay/regression. [centogene.com]

  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 of them suffered from severe developmental delay and intellectual disability (Table 4 ). Hypotonia was also obvious. [bmcmedgenet.biomedcentral.com]

  De novo variants in SCN8A are a recently recognized cause of early-onset seizures with moderate to severe developmental delay 18, 19, 20, 21, 22, 23. [nature.com]

  Developmental delay was reported in all patients, with intractable epilepsy (84%) and features of epileptic encephalopathy on EEG (95%) also frequently observed; ASD was reported in 10/20 patients (50%). [autism.mindspec.org]

• Falling

  The fall and winter came with seizures, mild illnesses and mostly just a lot of family time getting to know Miss Elsa, the newest Olavson. [gnao1.org]

  Any variants that fall outside these regions are not analyzed. Any specific limitations in the analysis of these genes are also listed in the table below. [invitae.com]

  The more severe epileptic encephalopathies fall into this category. [emedicine.medscape.com]

  When aged between 1 and 4 years, a more aggres-sive period starts, during which symmetrical, asymmetrical ormassive MS dominate in 80% of cases, leading to falls or hurl-ing of objects. [docslide.com.br]

• Cerebral Palsy

  Most therapies are related to symptoms and day-to-day living. [2] Notable cases [ edit ] Ivan Cameron, son of David Cameron, former leader of the British Conservative Party and Prime Minister of the UK, was born with the condition and cerebral palsy. [en.wikipedia.org]

• Hypoxemia

  Studies using nuclear magnetic resonance spectroscopy suggest that neonatal seizures do not determine metabolic changes and/or cerebral hypoperfusion unless significant hypoxemia or severe lactic acidosis is present(). [jped.com.br]

• Overeating

  We hadn’t seen his smile for over a year. It was a joyous time in our lives. The surgery was no doubt a success even though seizures returned. [gnao1.org]

  With over 100 distinguished contributors from world-leading epilepsy programs, the long-awaited new edition maintains the breadth and scope the book is known for while significantly updating the science, practice, and therapeutic strategies that continue [books.google.com]

  Niedermeyer turns over the reins of lead editor to Donald Schomer, MD, Professor of Neurology at Harvard Medical School. Dr. [books.google.it]

  Both publications were revised and re-written over and over again to fit the overall didactic mission of the literacy series, an effort that takes approximately 10x as long as writing a typical review. [epilepsygenetics.net]

  Over the next twenty years, additional families with similar stories were described. In a few instances, seizures persisted into later life but outcomes were otherwise favorable. [kcnq2cure.org]

• Cyanosis

  Cyanosis transient neonatal (TNCY) [MIM:613977] HBG2 Cyclic haematopoiesis (CH) [MIM:162800] Cyclic haematopoiesis (CH) [MIM:162800] ELANE Cystic fibrosis (CF) [MIM:219700] Cystic fibrosis (CF) [MIM:219700] CFTR Deafness Deafness, autosomal dominant, [dsysmap.irbbarcelona.org]

• Hearing Impairment

  hearing impairment, ability of independent walking and oromotor dysfunction requiring nasogastric tube or gastrostomy feeding). [journals.plos.org]

• Visual Impairment

  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]

  Cortical visual impairment in children with infantile spasms. J AAPOS. 2000;4(3):175-8.Ito M, Seki T, Takuma Y. Current therapy for West syndrome in Japan. J Child Neurol. 2000;15(6):424-8.Rufo-Campos M. [malattierare.regione.veneto.it]

  impairment, hearing impairment, ability of independent walking and oromotor dysfunction requiring nasogastric tube or gastrostomy feeding). [journals.plos.org]

• 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]

• Convulsions

  Familial Infantile, With Paroxysmal Choreoathetosis ICCA Syndrome Paroxysmal Kinesigenic Dyskinesia With Infantile Convulsions Infantile Convulsions And Paroxysmal Choreoathetosis, Familial ICCA PKD/IC 602066 Genetic Test Registry Corpus Callosum, Agenesis [ukgtn.nhs.uk]

  Benign idiopathic neonatal convulsions Benign idiopathic neonatal convulsions were initially described in the literature as "fifth day fits"(). [jped.com.br]

  Individuals with the disorder may experience several different types of seizures including drop attacks, tonic seizures, absence, and convulsions. [kcnq2cure.org]

  Two (I-2 and II-2) of them initialized as febrile convulsion, which evolved into afebrile seizures. The others initialized as focal seizures. [bmcmedgenet.biomedcentral.com]

  The first clinical signs consisted of right facial spasms (arrow; also note muscle artefacts on the right) progressing to hemi- convulsions. 26.  Prognosis  Seizures and EEG abnormalities usually remit by 15yrs of age.  50% of patients -relatively [slideshare.net]

• Excitement

  Plays a role in the induction of long-term potentiation (LTP) of neuron excitability in the CA3 layer of the hippocampus (By similarity). [ghr.nlm.nih.gov]

  […] potential (AP) repolarization, duration and frequency of repetitive AP firing in neurons, muscle cells and endocrine cells and plays a role in homeostatic attenuation of electrical excitability throughout the brain. [autism.mindspec.org]

  Kv2.1: A voltage-gated k+ channel critical to dynamic control of neuronal excitability. Neurotoxicology 2005;26:743–752. 6. Sarmiere PD, Weigle CM, Tamkun MM. [docksci.com]

  Delayed rectifier potassium current is an important mediator of neuronal excitability particularly under conditions of repetitive firing. We hypothesized that genetic variation in KCNV2 or KCNB1 may contribute to epilepsy risk in humans. [grantome.com]

  This data is the most exciting finding in the field of epilepsy genetics in 2012 so far, as it provides a deep insight into the genetic architecture of Infantile Spasms (IS) and Lennox-Gastaut Syndrome (LGS). [epilepsygenetics.net]

• Aphasia

  Although the term epileptic aphasia has been used for LKS, epileptic aphasia by its strict definition refers to an aphasia caused by an actual seizure or, in other words, an ictal aphasia. [emedicine.medscape.com]

  Landau–Kleffner Syndrome Acquired Epileptic Aphasia)  Partly reversible, epileptic encephalopathy of childhood manifesting with acquired verbal auditory agnosia and fluctuating course of the linguistic disturbances that occur together with other cognitive [slideshare.net]

  GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nat Genet 2013; 45 (9) 1073-1076 78 Rauch A, Wieczorek D, Graf E, et al. [thieme-connect.com]

  Epilepsy, Familial Temporal Lobe, 1 Epilepsy, Lateral Temporal Lobe, Autosomal Dominant Epilepsy, Partial, With Auditory Features ETL1 ADLTE ADPEAF 600512 Genetic Test Registry Epilepsy, Focal, With Speech Disorder And With Or Without Mental Retardation Aphasia [ukgtn.nhs.uk]

  […] encephalopathy-related disorders – depending on the major symptoms in the initial case – includes the following diseases: Benign childhood epilepsy Complex partial seizures Epilepsia partialis continua Generalized tonic-clonic seizures Autism Acquired epileptic aphasia [centogene.com]

• Generalized Tonic-Clonic Seizure

  Other seizure types, including generalized tonic-clonic seizures, focal motor seizures and hemiconvulsions, are seen in 1/3 of cases. Those who live past the age of 2 years manifest with severe psychomotor deficits. [orpha.net]

  About 30% of patients develops other seizure types, such as hemiconvulsions, motor seizures or generalized tonic-clonic seizures 42. [centogene.com]

  About 1 out of 3 infants with OS may develop other seizure types, such as partial or focal seizures (start in one area of the brain), atonic, myoclonic or generalized tonic clonic seizures. Infants with OS may also develop infantile spasms. [epilepsy.com]

  Tonic-Clonic Seizures, Included Myoclonic Epilepsy, Severe, Of Infancy Severe Myoclonic Epilepsy Of Infancy EIEE6 EIEE6 SME SMEI 607208 Genetic Test Registry Epileptic Encephalopathy, Early Infantile, 7 EIEE7 613720 Genetic Test Registry Epileptic Encephalopathy [ukgtn.nhs.uk]

  clonic or unilateralclonic or tonic-clonic seizures, usually prolonged, in an appar-ently normal infant [52]. [docslide.com.br]

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]

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]