Kinesin family member 5A (KIF5A) is a molecular motor protein responsible for intracellular transport, specifically in neurons. While abnormalities in the 
  gene have been reported in the onset of various neurological diseases, there are no studies demonstrating an association between this gene and West syndrome.
 
  In the case presented here, epileptic spasms appeared at 7months; electroencephalogram (EEG) investigation confirmed hypsarrhythmia, resulting in a diagnosis of West syndrome. The patient exhibited peculiar facies, hypotonia, failure to thrive, and severe global developmental delay.
 
  Cranial magnetic resonance imaging (MRI) revealed severe delayed myelination. 
  I-iomazenil SPECT image at 7months demonstrated decreased accumulation in bilateral areas, including the primary somatosensory and motor cortices, and the primary and association visual areas compared to an age-matched control. Whole exome sequencing analysis demonstrated a novel de novo heterozygous missense variant in 
  , (NM_004984.4c.710A>T p. Glu237Val).
 
  It was concluded that the 
  variant impaired the transport of GABA
  receptors to the cell membrane surface, thus leading to an imbalance of these receptors between regions of the cerebrum and resulting in the onset of epilepsy.
 It was concluded that the KIF5A variant impaired the transport of GABAA receptors to the cell membrane surface, thus leading to an imbalance of these receptors between regions of the cerebrum and resulting in the onset of epilepsy.Forel-H-tomy for intractable epilepsy was introduced by Dennosuke Jinnai in the 1960s. Recently, Forel-H-tomy was renamed to "pallidothalamic tractotomy" and revived for the treatment of Parkinson's disease and dystonia. Two of our patients with movement disorders and comorbid epilepsy experienced significant seizure reduction after pallidothalamic tractotomy, demonstrating the efficacy of this method. The first was a 29-year-old woman who had temporal lobe epilepsy with focal impaired awareness seizure once every three months and an aura 10-20 times daily, even with four antiseizure medicines. For the treatment of hand dyskinesia, she underwent left pallidothalamic tractotomy and her right-hand dyskinesia significantly improved. Fourteen months later, she had experienced no focal impaired awareness seizure and the aura decreased to one to three times per month. The second case was that of a 15-year-old boy diagnosed with progressive myoclonic epilepsy, who developed generalized tonic-clonic seizure, which manifested once every month, despite treatment with five antiseizure medicines. After surgery, myoclonic movements in his right hand slightly improved. A one-year follow-up revealed that he had not experienced a generalized tonic-clonic seizure. The lesion locations in the two cases were close to the vicinity of Jinnai's Forel-H-tomy. Forel's field H deserves reconsideration as a treatment target for intractable epilepsy.We explored the impact of coronavirus virus 2019 (COVID-19) pandemic on patients with Dravet syndrome (DS) and their family. With European patient advocacy groups (PAGs), we developed an online survey in 10 languages to question health status, behavior, personal protection, and health services before and after lockdown. Approximately 538 European PAG members received electronic invitations. Survey ran from April 14, to May 17, 2020, with 219 answers; median age 9 year 10 months.  https://www.selleckchem.com/products/nik-smi1.html  Protection against infection was highly used prior to COVID-19, but 88% added facemask-use according to pandemic recommendations. Only one patient was tested positive for COVID-19. Most had stable epilepsy during lockdown, and few families (4%) needed emergency care during lockdown. However, behavior disorder worsened in over one-third of patients, regardless of epilepsy changes. Half of appointments scheduled prior to lockdown were postponed; 12 patients (11%) had appointments fulfilled; and 39 (36%) had remote consultations. Responders welcomed remote consultations. Half of responders were unsatisfied with psychological remote support as only few (21 families) received this support. None of the five of patient in clinical trials stopped investigational treatment. Prior adoption of protective measures against general infection might have contributed to avoiding COVID-19 infections. Protocols for the favored remote contact ought to now be prepared.
  It is often difficult to diagnose epilepsy syndromes in resource-limited settings. This study was aimed to investigate the prospect of ascertaining the diagnosis, clinical profile, and treatment outcomes of epilepsy syndromes (ESs) among children in a resource-limited setting.
 
  This was a descriptive study done from 01/07/2009 to 15/06/2017 among children (1-17years of age) with unprovoked seizures presenting to the pediatric neurology clinic of a university hospital in eastern Nepal. Diagnosis, classification, and treatment of seizures were based upon International League Against Epilepsy guidelines.
 
  Of 768 children with unprovoked seizures, 120 (15.6%) were diagnosed as ES. The age of onset of seizure was unique for each ES. Developmental delay and cerebral palsy were present in 47.5% and 28.3% children, respectively. Common ESs were West syndrome (WS)-26.7%, generalized tonic-clonic seizures alone (GTCSA)-21.7%, self-limited childhood epilepsy with centrotemporal spikes (SLCECTS)-12.5%, childhood absend LGS were relatively pharmaco-resistant. Electro-clinical diagnosis of certain ES avoids the necessity of neuroimaging.
 A reasonable proportion (15.6%) of unprovoked seizures could be classified into specific ES despite limited diagnostic resources. WS was the most common ES. GTCSA, SLCECTS, CAE, and LGS were other common ESs. GTCSA, SLFIE, CAE, SLCECTS, GEFS+, and JME were largely pharmaco-responsive. PME, WS, and LGS were relatively pharmaco-resistant. Electro-clinical diagnosis of certain ES avoids the necessity of neuroimaging.
  To characterize SUDEP discussion practices of child neurologists approximately 6 and 12months after publication of the American Academy of Neurology SUDEP Clinical Practice Guideline and explore factors associated with discussion practice.
 
  Child Neurology Society members (~2450) were electronically surveyed in November 2017 and May 2018 regarding their practice of discussing SUDEP with patients with epilepsy or their caregivers. Multivariable proportional odds ordinal logistic regression evaluated factors associated with discussing SUDEP with a greater proportion of epilepsy patients/caregivers. Reasons for changing practice were described.
 
  Among the 369 child neurologist respondents, 36% reported discussing SUDEP with at least half of their epilepsy patients/caregivers including 12% who discuss with all or almost all (>90%) of their epilepsy patients/families. Those who discussed SUDEP with an increased proportion of their patients were more likely to agree that they knew enough to talk about SUDEP, agree that healthcare providers have an ethical obligation to discuss SUDEP, and disagree that there is not enough time to talk about SUDEP.