Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates

[1]  S. Massey,et al.  Tonic Seizures in a Patient With Lennox-Gastaut Syndrome Manifest as "Icicles" Rather Than "Flames" on Quantitative EEG Analysis. , 2022, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

[2]  J. Appendino,et al.  SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain and loss of function effects. , 2022, Journal of neurophysiology.

[3]  D. Ferriero,et al.  Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures , 2021, Epilepsia.

[4]  C. McCulloch,et al.  Safety of Early Discontinuation of Antiseizure Medication After Acute Symptomatic Neonatal Seizures , 2021, JAMA neurology.

[5]  O. Glenn,et al.  ACR Appropriateness Criteria® Seizures-Child. , 2021, Journal of the American College of Radiology : JACR.

[6]  C. Spagnoli,et al.  Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review , 2021, International journal of molecular sciences.

[7]  S. Moshé,et al.  The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures , 2021, Epilepsia.

[8]  J. Appendino,et al.  Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I , 2020, Epilepsia open.

[9]  Jen Q. Pan,et al.  Biological concepts in human sodium channel epilepsies and their relevance in clinical practice , 2020, Epilepsia.

[10]  L. Lagae,et al.  Why we urgently need improved seizure and epilepsy therapies for children and neonates , 2019, Neuropharmacology.

[11]  C. Philippe,et al.  A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy , 2019, Epilepsia open.

[12]  Muhammad Umair,et al.  Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review , 2019, Journal of central nervous system disease.

[13]  Klaus Lehnert,et al.  De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias. , 2018, American journal of human genetics.

[14]  Mingbang Wang,et al.  Data on mutations and Clinical features in SCN1A or SCN2A gene , 2018, Data in brief.

[15]  F. Yin,et al.  Genetic etiologies of the electrical status epilepticus during slow wave sleep: systematic review , 2018, BMC Genetics.

[16]  K. Holman,et al.  Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy , 2018, Seizure.

[17]  L. Hellström-Westas,et al.  Amplitude-integrated electroencephalography for seizure detection in newborn infants. , 2018, Seminars in fetal & neonatal medicine.

[18]  Amanda S. Lindy,et al.  Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders , 2018, Epilepsia.

[19]  P. Ilves,et al.  Epilepsy after perinatal stroke with different vascular subtypes , 2018, Epilepsia open.

[20]  Erika Axeen,et al.  Neonatal epilepsy genetics. , 2018, Seminars in fetal & neonatal medicine.

[21]  Pasquale Striano,et al.  A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations , 2017, Neonatology.

[22]  J. Soul,et al.  Profile of neonatal epilepsies , 2017, Neurology.

[23]  L. Lagae,et al.  Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders , 2017, Brain : a journal of neurology.

[24]  G. Holmes,et al.  Rapid and safe response to low‐dose carbamazepine in neonatal epilepsy , 2016, Epilepsia.

[25]  N. Tommerup,et al.  Gene Panel Testing in Epileptic Encephalopathies and Familial Epilepsies , 2016, Molecular Syndromology.

[26]  M. Mizuguchi,et al.  Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures , 2015, Epilepsy Research.

[27]  I. Scheffer,et al.  Early and effective treatment of KCNQ2 encephalopathy , 2015, Epilepsia.

[28]  Bale,et al.  Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology , 2015, Genetics in Medicine.

[29]  M. Benders,et al.  The aetiology of neonatal seizures and the diagnostic contribution of neonatal cerebral magnetic resonance imaging , 2015, Developmental medicine and child neurology.

[30]  H. Frndova,et al.  Seizure burden is independently associated with short term outcome in critically ill children. , 2014, Brain : a journal of neurology.

[31]  A. Hoischen,et al.  Exome sequencing identifies a de novo SCN2A mutation in a patient with intractable seizures, severe intellectual disability, optic atrophy, muscular hypotonia, and brain abnormalities , 2014, Epilepsia.

[32]  I. Scheffer,et al.  Extending the KCNQ2 encephalopathy spectrum , 2013, Neurology.

[33]  M. Levene,et al.  Epidemiology and aetiology of neonatal seizures. , 2013, Seminars in fetal & neonatal medicine.

[34]  J. Shendure,et al.  Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1 , 2013, Nature Genetics.

[35]  Brian J. Smith,et al.  Modulation of voltage-gated K+ channels by the sodium channel β1 subunit , 2012, Proceedings of the National Academy of Sciences.

[36]  A. Becker,et al.  Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. , 2010, Brain : a journal of neurology.

[37]  Vann Bennett,et al.  A Common Ankyrin-G-Based Mechanism Retains KCNQ and NaV Channels at Electrically Active Domains of the Axon , 2006, The Journal of Neuroscience.

[38]  Ingmar Rosén,et al.  Amplitude-integrated EEG Classification and Interpretation in Preterm and Term Infants , 2006 .

[39]  Dimitri M Kullmann,et al.  The neuronal channelopathies. , 2002, Brain : a journal of neurology.

[40]  I. Borggraefe,et al.  Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review. , 2019, European journal of medical genetics.

[41]  D. Lev,et al.  Lacosamide for SCN2A-related intractable neonatal and infantile seizures. , 2018, Epileptic disorders : international epilepsy journal with videotape.

[42]  L. Lagae,et al.  Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN 2 A-related disorders , 2017 .

[43]  H. Lerche,et al.  Potassium channel genes and benign familial neonatal epilepsy. , 2014, Progress in brain research.