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]

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]

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]

• Swelling

  (A) T1-weighted MRI (inversion recovery) shows discrete swelling of the basal nuclei and thalamus. (B) T2-weighted MRI shows a decreased signal in basal nuclei and thalamus. [frontiersin.org]

• Aspiration

  Add 6.0 to 8.0 ml of complete growth medium and aspirate cells by gently pipetting.5. [creativebiomart.net]

• Respiratory Insufficiency

  The child died on day 25 due to respiratory insufficiency during a status epilepticus. [frontiersin.org]

• Dyspnea

  Benign familial neonatal convulsion seizures are characterized by a tonic component followed by a range of motor phenomena associated with ocular symptoms, dyspnea, and autonomic signs. [frontiersin.org]

• Tremor

  Some may also exhibit tremor, ataxia, or dystonia. The clinical presentation often evolves into West syndrome and Lennox-Gastaut syndrome. [invitae.com]

  Cerebellar syndrome with ataxic gait and/or tremor was present in 60%. Our data confirm that STXBP1 mutations are associated with neonatal-infantile epileptic encephalopathies. [germaco.net]

  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]

• Agitation

  Add 2.0 to 3.0 ml of Trypsin-EDTA solution to flask and observe cells under an inverted microscope until cell layer is dispersed (usually within 5 to 15 minutes).Note: To avoid clumping do not agitate the cells by hitting or shaking the flask while waiting [creativebiomart.net]

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]

  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 infancy Multiple seizures daily at onset Seizure frequency [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]

• Focal Sharp Waves

  Electroencephalogram (EEG) at day 5 showed a non-synchronized immature background pattern with multiple focal sharp waves predominant over the right hemisphere and subclinical seizures lasting up to 40 s. [frontiersin.org]

• Multifocal Discharges

  Interictal EEG exhibited discontinuous background, including patterns of burst suppression and multifocal discharges, predominantly in the centrotemporal regions, which were aggravated during sleep. [ncbi.nlm.nih.gov]

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]

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]

Description More information Idiopathic epileptic syndromes Idiopathic epileptic syndromes Suthida Yenjun, M.D. 13 th Annual Meeting of Epilepsy Society of Thailand 29 July 2009 Idiopathic Meaning of unknown origin Primary disorder with an independent etiology [docplayer.net]

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]

2014] and may indicate that the pathophysiological mechanisms in vivo involve other factors not present in our expression system. [karger.com]

Driving with no brakes: molecular pathophysiology of Kv7 potassium channels. [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]