Patient Description We describe a patient with EIEE13 (de novo heterozygous pathogenic mutation in SCN8A - p.Ile240Val (ATT>GTT)) who presented prenatally with maternally reported intermittent, rhythmic movements that, when observed on ultrasound, were [jhu.pure.elsevier.com]

The general purpose of the present study was to analyze specific kinds of data from a large series of epileptic patients to focus the significance of the findings, particularly in relation to previously published results. [books.google.it]

Dravet syndrome (DS) is a variant of epileptic encephalopathy that presents in infancy with gradually varying seizure types. [neurologyindia.com]

Part of patients with SCN8A mutations presented only mental retardation without epilepsy [ 11 ]. [bmcmedgenet.biomedcentral.com]

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]

• Epilepsy

  Background SCN8A mutations are rare and cause a phenotypically heterogeneous early onset epilepsy known as early infantile epileptic encephalopathy type 13 (EIEE13, OMIM #614558). [jhu.pure.elsevier.com]

  The other one affected member presented with refractory epilepsy and developmental regression. She died from sudden unexpected death in epilepsy (SUDEP) at 17-year-old. [bmcmedgenet.biomedcentral.com]

  CHRNA2 ADNFLE, focal epilepsy 20301348 CHRNA4 ADNFLE, focal epilepsy 20301348 CHRNA7 15q13.3 recurrent microdeletion syndrome, risk factor for idiopathic generalized epilepsy and neurodevelopmental disorders 21290787,20502679 CHRNB2 ADNFLE, focal epilepsy [tests.labmed.washington.edu]

  With increasing genetic studies in common epilepsies, the middle ground between the extremes of mild familial epilepsies and severe epilepsy encephalopathies will be increasingly explored. [karger.com]

  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]

• Anemia

  And/Or Hemolytic Anemia GLUT1DS2 DYT18 612126 Genetic Test Registry Goldberg-Shprintzen Syndrome Goldberg-Shprintzen Megacolon Syndrome GOSHS 609460 Genetic Test Registry Kleefstra Syndrome 9q Subtelomeric Deletion Syndrome 9q- Syndrome Chromosome 9q34.3 [ukgtn.nhs.uk]

  Myopathy, Autosomal Dominant Centronuclear Myopathy AR 100 20 of 20 C12ORF65 Combined Oxidative Phosphorylation Deficiency, Autosomal Recessive Spastic Paraplegia AR na na CACNA1E Epileptic Encephalopathy AD 99.94 25 of 25 CASK Nonspherocytic Hemolytic Anemia [igenomix.es]

• Developmental Disorder

  Large-scale discovery of novel genetic causes of developmental disorders. Nature. 2015; 519 :223–8. Frasier CR, Wagnon JL, Bao YO, McVeigh LG, Lopez-Santiago LF, Meisler MH, Isom LL. [ncbi.nlm.nih.gov]

  CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders. Hum Mol Genet. 2005;14(24):3775–3786. pmid:16330482 View Article PubMed/NCBI Google Scholar 50. Friocourt G, Parnavelas JG. [journals.plos.org]

• Seizure

  Conclusion This is the first report of EIEE13 associated with clinical prenatal-onset seizures. Ultrasonography can be useful for identifying fetal seizures, which may be treatable in utero. [jhu.pure.elsevier.com]

  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]

  […] 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]

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

  The first seizure is often triggered by a fever. As time passes, the child has many types of seizures, including general seizures, partial seizures, and myoclonic jerks. The initial EEG is normal but slows over time. [verywell.com]

• 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]

  Classification is typically based on seizure type (e.g., simple partial, complex partial, generalized, convulsive, non-convulsive) or age of onset (i.e., neonatal, infancy, childhood, adolescent/adult). [bcbst.com]

  As the child was having post-vaccinal convulsions, a possible diagnosis of DS was considered and a genetic analysis was performed for targeted gene sequencing. [neurologyindia.com]

  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]

• Myoclonus

  In addition to limited partial myoclonus, generalized myoclonus may also be observed occasionally in some cases. Partial seizures are frequent and occur shortly after erratic myoclonus. [intechopen.com]

  Early Myoclonic Encephalopathy Early myoclonic encephalopathy is associated with myoclonus, a fast muscle twitch that comes on in early infancy. An electroencephalogram (EEG) is very abnormal in these cases. [verywell.com]

  Severe Myoclonic Epilepsy in Infancy or Dravet Syndrome is a severe form of EE with the following features: Onset is commonly during the first year of life Seizure types include myoclonus, prolonged convulsive seizures, frequent status epilepticus, and [centogene.com]

  Early Myoclonic Encephalopathy  Onset < age 3 m, initially fragmentary myoclonus and then erratic focal seizures, massive myoclonias or tonic spasms.  EEG - suppression–burst activity, which evolves into hypsarrhythmia,accentuated during sleep,persists [slideshare.net]

  […] migraine 11342703 CDKL5 Severe early onset epileptic encephalopathy - usually girls, boys even more severely affected (X-linked) 12736870 CHD2 CHD2-related neurodevelopmental disorders, early onset epileptic encephalopathy, photosensitive epilepsy, eyelid myoclonus [tests.labmed.washington.edu]

• Global Developmental Delay

  He developed global developmental delay, and is presently on multiple anticonvulsants. Genetic analysis was suggestive of SCN1B gene mutation associated with DS. [neurologyindia.com]

  Somatic growth failure, progressive microcephaly, global developmental delay, visual inattentiveness, and dyskinetic movements developed within a few months of life... [readbyqxmd.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]

• Confusion

  It is characterized by loss of consciousness, convulsions, spasms, sensory confusion, and disturbances in the autonomic nervous system. There are many different types of epilepsy and seizures and the exact cause is frequently unknown. [kcnq2cure.org]

  The confusing part to some may be also realizing that these gene mutations are or can be associated with other rare forms of pediatric epilepsy such as LGS or Dravet Syndrome. [sites.google.com]

The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies. [dnatesting.uchicago.edu]

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]

• 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]

• Multifocal Spikes

  Diagnosis Hypsarrhythmia, the typical interictal EEG finding, consists of a disorganized pattern with asynchronous, very high amplitude slowing and frequent multifocal spike and sharp wave discharges. [intechopen.com]

SCN8A Epileptic Encephalopathy: Detection of Fetal Seizures Guides Multidisciplinary Approach to Diagnosis and Treatment. [jhu.pure.elsevier.com]

Risk and treatment management includes, but is not limited to [6] : For ALDH7A1 related pyridoxine-dependent epilepsy and PNPO related pyridoxamine 5′-phosphate oxidase deficiency: Treatment Pyridoxine should be used For KCNQ2 related early infantile [swisscheckup.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]

This article reviews the various seizure types, etiologies, diagnostic modalities, and treatment options for neonates with seizures and seizure-like episodes. [neoreviews.aappublications.org]

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

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]

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]

 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]

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

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]

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]

This article reviews the various seizure types, etiologies, diagnostic modalities, and treatment options for neonates with seizures and seizure-like episodes. [neoreviews.aappublications.org]

The diagnostic workup of EIEEs remains challenging because of frequent difficulties in defining etiologies. [dnatesting.uchicago.edu]

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

Página 67 - Socioeconomic characteristics of childhood seizure disorders in the New Haven area: an epidemiologic study ‎ Página 67 - Epilepsy after penetrating head injury. I. Clinical correlates: a report of the Vietnam Head Injury Study. [books.google.es]

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 SLC13A5 Genetic Association Database (GAD) SLC13A5 Human Genome Epidemiology (HuGE) Navigator SLC13A5 Atlas of Genetics and Cytogenetics in Oncology and Haematology: SLC13A5 No data available for Genatlas for SLC13A5 Gene Human [genecards.org]

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]

While these gene discoveries initially had no direct link to the more severe epileptic encephalopathies, they laid the general pathophysiological concept, such as the channelopathy concept of the human epilepsies [Steinlein, 2004], which eventually provided [karger.com]

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]

Because several causes of seizures in newborns require rapid recognition and treatment to prevent further injury, early recognition is important. Seizures in newborns frequently have more subtle clinical manifestations than in older children. [neoreviews.aappublications.org]

However, the high cost of the genetic analysis has prevented the parents from going ahead with the test. At present, the child is on a regular follow-up. He has recently been started on ketogenic diet. [neurologyindia.com]

Clinical Actionability Tools Clinical Actionability tools support the curation process is to identify those human genes that, when significantly altered, confer a high risk of serious disease that could be prevented or mitigated if the risk were known [clinicalgenome.org]

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

Clinico-electrical evolution in pre-hypsarrhythmic stage: towards prediction and prevention of West syndrome. Brain Dev. 2001;23(7):482-7.Ohtsuka Y, Kobayashi K, Ogino T, Oka E. Spasms in clusters in epilepsies other than typical West syndrome. [malattierare.regione.veneto.it]