The phenotype of SCN8A developmental and epileptic encephalopathy

Neurology
Elena GardellaRikke S Møller

Abstract

To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558). Twenty-two patients, aged 19 months to 22 years, underwent electroclinical assessment. Sixteen of 22 patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age of 4 months, followed by developmental slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, and severe gastrointestinal symptoms (15/22), worsening during early childhood and plateauing at age 5 to 9 years. Death occurred in 4 children, following extreme neurologic deterioration, at 22 months to 5.5 years. Nonconvulsive status epilepticus recurred in 14 of 22 patients. The most effective antiepileptic drugs were oxcarbazepine, carbamazepine, phenytoin, and benzodiazepines. EEG showed background deterioration, epileptiform abnormalities with a temporo-occipital predominance, and posterior delta/beta activity correlating with visual impairment. Video-EEG documented focal seizures (FS) (22/22), spasm-like episodes (8/22), cortical myoclonus (8/22), and myoclonic absences (1/22). FS typically clustered and were prolonged (<20 minutes) with (1) c...Continue Reading

References

Apr 26, 2000·Proceedings of the National Academy of Sciences of the United States of America·J H CaldwellS R Levinson
May 15, 2002·Developmental Medicine and Child Neurology·E BiagioniE Mercuri
Jul 3, 2004·Epilepsia·Teresa RandòFrancesco Guzzetta
Apr 8, 2011·Epilepsia·Michelle Bureau, Bernardo Dalla Bernardina
Jan 26, 2012·Annals of Neurology·Sarah WeckhuysenPeter de Jonghe
Aug 13, 2013·Nature·Andrew S AllenMelodie R Winawer
Jun 4, 2014·Epilepsia·Chihiro OhbaHirotomo Saitsu
Sep 18, 2014·Human Molecular Genetics·Jacy L WagnonMiriam H Meisler
Sep 23, 2014·Epilepsy Research·Carolien G F de KovelBobby P C Koeleman
Jan 9, 2015·Neurology·Jan LarsenUNKNOWN EuroEPINOMICS RES Consortium CRP
May 8, 2015·Pediatrics International : Official Journal of the Japan Pediatric Society·Satoru TakahashiHiroshi Azuma
Jun 2, 2015·Frontiers in Neurology·Jacy L Wagnon, Miriam H Meisler
Aug 21, 2015·Neurology·Katherine B HowellIngrid E Scheffer
Dec 18, 2015·Annals of Neurology·Elena GardellaYvonne G Weber
Feb 13, 2016·Neurology·Hannah StambergerSarah Weckhuysen
May 24, 2016·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·G AnandS Jayawant
Jun 9, 2016·Epilepsia·Miriam H MeislerIngrid E Scheffer
Oct 27, 2016·Molecular Syndromology·Rikke S MøllerHans A Dahl
Apr 6, 2017·Brain : a Journal of Neurology·Markus WolffRikke S Møller
Nov 13, 2017·Epilepsy Research·Yangyang XiaoLiqun Liu

❮ Previous
Next ❯

Citations

Jan 3, 2019·Brain : a Journal of Neurology·Rosie K A Bunton-StasyshynMiriam H Meisler
Jan 8, 2019·Brain : a Journal of Neurology·Yuanyuan LiuHolger Lerche
Jan 22, 2019·Expert Review of Molecular Diagnostics·Rikke S MøllerKatrine M Johannesen
Apr 11, 2019·Epilepsia·Katrine M JohannesenRikke S Møller
Jun 13, 2019·Current Neurology and Neuroscience Reports·Zheyu XuEng-King Tan
Jul 11, 2019·Epilepsy Currents·Tracy S Gertler, Gemma L Carvill
Feb 11, 2020·American Journal of Medical Genetics. Part a·Emmanuelle RanzaChristian M Korff
Mar 24, 2020·Brain : a Journal of Neurology·David Lewis-SmithRhys H Thomas
Jul 10, 2020·Epilepsia·Marina TrivisanoNicola Specchio
Aug 14, 2019·Annals of Clinical and Translational Neurology·Tariq ZamanEthan M Goldberg
Dec 16, 2019·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Emanuele BartoliniPasquale Palumbo
Oct 6, 2020·Frontiers in Pharmacology·Luis Felipe Santos MenezesElisabeth Ferroni Schwartz
Aug 28, 2020·Applied Neuropsychology. Child·L Collins MedlinWilliam S MacAllister
Oct 21, 2020·Nature Reviews. Neurology·Rima Nabbout, Mathieu Kuchenbuch
Nov 18, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Marianna AlagiaGaetano Terrone
Dec 7, 2020·Brain : a Journal of Neurology·Nicola Specchio, Paolo Curatolo
Nov 2, 2019·Epilepsy Research·Hyo Jeong KimHoon-Chul Kang
Sep 12, 2020·Biochimica Et Biophysica Acta. Molecular Basis of Disease·Laura SoléMichael M Tamkun
Jan 1, 2020·European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society·Elisa MustoRikke S Møller
Dec 31, 2019·Epilepsy Research·John M SchreiberWilliam D Gaillard
Nov 4, 2020·Epilepsia·Wenxi YuMiriam H Meisler
Feb 4, 2021·Nature Reviews. Neuroscience·Miriam H MeislerWenxi Yu
Mar 5, 2021·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Jennifer C WongAndrew Escayg
Mar 26, 2021·Frontiers in Neuroscience·Eric R WengertManoj K Patel
Mar 27, 2021·Physiological Reviews·Massimo MantegazzaWilliam A Catterall
May 1, 2021·International Journal of Molecular Sciences·Carlotta SpagnoliFrancesco Pisani
May 25, 2021·Epilepsy Currents·Ethan M Goldberg
Aug 7, 2021·Pediatric Neurology·Dinesh Talwar, Michael F Hammer
Oct 3, 2020·Seizure : the Journal of the British Epilepsy Association·Laura CanafogliaBarbara Castellotti

❮ Previous
Next ❯

Related Concepts

Related Feeds

Attention Disorders

Attention is involved in all cognitive activities, and attention disorders are reported in patients with various neurological diseases. Here are the latest discoveries pertaining to attention disorders.