Some children belonging to the more severe end of the spectrum can present clinical similarities with Ohtahara syndrome. [epilepsygenetics.net]

We report that all the patients carrying the p.A294V mutation presented the clinical and EEG characteristics of EOEE. [germaco.net]

Reports of more severe presentations of seizures and intellectual disability associated with KCNQ2 were published from 2003-2007. [kcnq2.org]

We report the case of an infant with KCNQ2-related neonatal epileptic encephalopathy presenting with intractable seizures beginning on the second day of life, which were resistant to multiple antiepileptic drugs. [ncbi.nlm.nih.gov]

This suggests that KCNQ2 screening should be included in the diagnostic workup of refractory neonatal seizures of unknown origin. [digital.library.adelaide.edu.au]

Our objective was to confirm that KCNQ2 was an important gene to include in the diagnosis workup of EOEEs and to fully describe the clinical and EEG features of mutated patients. [ojrd.biomedcentral.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]

The initial workup showed a partial deficit of the complex II of the respiratory chain in muscle and liver. [germaco.net]

In our opinion genetic aetiology may not be an absolute contraindication for surgery; phenotypic expression and a personalized pre-surgical workup could help to select which patients could benefit from surgery. [ccrejournal.eu]

• Multifocal Epileptic Activity

  Also, unlike BFNE, the interictal EEG is highly abnormal, showing a burst suppression pattern or multifocal epileptic activity. Some children belonging to the more severe end of the spectrum can present clinical similarities with Ohtahara syndrome. [epilepsygenetics.net]

  Otahara syndrome is considered an epileptic encephalopathy because this abnormal brain activity is thought to contribute to the cognitive and behavioral impairments associated with the disorder. [kcnq2cure.org]

• EEG Shows Burst Suppression Pattern

  shows burst suppression pattern EEG shows multifocal epileptic activity Hyperintensities in the basal ganglia and/or thalamus on MRI Thin corpus callosum (in some patients) Reduced posterior white matter volume (in some patients) Onset of seizures in [kcnq2cure.org]

Previously, case studies have been published supporting the use of the therapy as a potential treatment for KCNQ2-EE. [neurologylive.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]

The KCNQ2 Cure Alliance strives to educate and to advance researchleading to treatments or a cure for patients living with the genetic disorder KCNQ2. [pairnomix.com]

METHODS: We identified 15 patients and reviewed the electroclinical, neuroimaging, and AED treatment data. [f1000.com]

Although there is no specific treatment, seizures may respond well to sodium channel blockers according to reports in the medical literature. Hopefully, specific treatments that lead to a better outcome will be discovered in the future. [jacksarmy.org]

Electroclinical Epilepsy Syndromes • Age of onset • Development – (examination) • Seizure type • EEG pattern • Prognosis • Management 20. [slideshare.net]

What is the prognosis? Of patients reported in the medical literature, prognosis appears to be variable. Seizures may eventually come under control with medication. [jacksarmy.org]

Depending on the severity, types of seizures, and prognosis, EEs can be classified into several major subtypes: Early Infantile EE (EIEE) or Ohtahara Syndrome is one of the most severe forms of EE and is characterized by the following: Presentation within [centogene.com]

Early infantile epileptic encephalopathy (EIEE) is a severe form of epilepsy with a poor prognosis. EIEE is characterized by infantile seizures and impaired intellectual development. [molgen.ua.ac.be]

Many etiological factors including hereditary and non-hereditary conditions have been reported. However, in up to a third of all cases determining the underlying cause is not possible. [research.unipd.it]

EME vs Ohtahara syndromes Ohtahara (EIEE) EME Seizures Tonic spasms Focal seizures Myoclonus focal seizures Tonic spasms Major Etiology Lesional Genetic or Metabolic Burst-suppression continuous in sleep and wake Accentuated in sleep Bursts Longer Shorter [slideshare.net]

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]

Etiology was classified as progressive/ metabolic (PM), remote symptomatic (RS), acute symptomatic (AS). [ccrejournal.eu]

In addition to EEG, the standard evaluation for the etiology of new onset neonatal seizures might include neuroimaging and laboratory testing of blood, urine, and CSF. [kcnq2.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]

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]

This review focuses on terminology, epidemiology, and diagnostic difficulties encountered by physicians facing with this condition. [ccrejournal.eu]

Among ion channel targets, potassium channels play a key role in the pathophysiology of neuropathic pain, epilepsy, and other unmet needs in diseases of the nervous system. [knoppbio.com]

The observed tentative reduction of the heteromeric Kv7.2/Kv7.3 currents has been previously seen for some Kv7.2 BFNS mutations in X. laevis oocytes [Orhan et al., 2014] and may indicate that the pathophysiological mechanisms in vivo involve other factors [karger.com]

Driving with no brakes: molecular pathophysiology of Kv7 potassium channels. J Physiol 2011; 26 :365–376. [ PubMed ] [ Google Scholar ] 30. Milh M, Lacoste C, Cacciagli P, et al. [ncbi.nlm.nih.gov]

Clinical trials aimed at prevention of chronic epilepsy have often produced negative, disappointing results. [books.google.com]

It has been suggested that potassium channels formed from the KCNQ2 and KCNQ3 proteins play a major role in preventing excessive excitability of neurons in newborns, but other mechanisms that prevent constant neuron activity develop during infancy. [ghr.nlm.nih.gov]

Here, we investigated whether STXBP1could prevent this inhibitory effect of Syn-1A and analyzed the consequences of two mutations in STXBP1 associated with EOEEs. [myneuronews.com]

Once babies are diagnosed with seizures, they may be given standard medications to prevent seizures. Although there is no specific treatment, seizures may respond well to sodium channel blockers according to reports in the medical literature. [jacksarmy.org]