Literature DB >> 23044011

Early-onset epileptic encephalopathies: Ohtahara syndrome and early myoclonic encephalopathy.

Jules C Beal1, Koshi Cherian, Solomon L Moshe.   

Abstract

Ohtahara syndrome and early myoclonic encephalopathy are the earliest presenting of the epileptic encephalopathies. They are typically distinguished from each other according to specific clinical and etiologic criteria. Nonetheless, considerable overlap exists between the two syndromes in terms of clinical presentation, prognosis, and electroencephalographic signature. Newer understandings of underlying etiologies of these conditions may support the previously suggested concept that they represent a single spectrum of disease rather than two distinct disorders. We review both syndromes, with particular focus on the underlying genetics and pathophysiology and implications regarding the classification of these conditions.
Copyright © 2012 Elsevier Inc. All rights reserved.

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Year:  2012        PMID: 23044011     DOI: 10.1016/j.pediatrneurol.2012.06.002

Source DB:  PubMed          Journal:  Pediatr Neurol        ISSN: 0887-8994            Impact factor:   3.372


  17 in total

1.  Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy.

Authors:  Xiuhua Bozarth; Jennifer N Dines; Qian Cong; Ghayda M Mirzaa; Kimberly Foss; J Lawrence Merritt; Jenny Thies; Heather C Mefford; Edward Novotny
Journal:  Am J Med Genet A       Date:  2018-12-04       Impact factor: 2.802

2.  STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.

Authors:  Debra Abramov; Noah Guy Lewis Guiberson; Jacqueline Burré
Journal:  J Neurochem       Date:  2020-08-04       Impact factor: 5.372

3.  Neonatal nonepileptic myoclonus is a prominent clinical feature of KCNQ2 gain-of-function variants R201C and R201H.

Authors:  Sarah B Mulkey; Bruria Ben-Zeev; Joost Nicolai; John L Carroll; Sabine Grønborg; Yong-Hui Jiang; Nishtha Joshi; Megan Kelly; David A Koolen; Mohamad A Mikati; Kristen Park; Phillip L Pearl; Ingrid E Scheffer; Rebecca C Spillmann; Maurizio Taglialatela; Silvia Vieker; Sarah Weckhuysen; Edward C Cooper; Maria Roberta Cilio
Journal:  Epilepsia       Date:  2017-01-31       Impact factor: 5.864

4.  Long-term course of early onset developmental and epileptic encephalopathy associated with 2q24.3 microduplication.

Authors:  Takuya Masuda; Hitoshi Osaka; Naomi Tsuchida; Satoko Miyatake; Kou Nishimura; Toshiki Takenouchi; Takao Takahashi; Naomichi Matsumoto; Takanori Yamagata
Journal:  Epilepsy Behav Rep       Date:  2022-04-25

5.  Munc18-1 haploinsufficiency impairs learning and memory by reduced synaptic vesicular release in a model of Ohtahara syndrome.

Authors:  Albert Orock; Sreemathi Logan; Ferenc Deak
Journal:  Mol Cell Neurosci       Date:  2017-12-05       Impact factor: 4.314

6.  Rapid Diagnosis of KCNQ2-Associated Early Infantile Epileptic Encephalopathy Improved Outcome.

Authors:  Dillon Y Chen; Shimul Chowdhury; Lauge Farnaes; Jennifer R Friedman; Jose Honold; David P Dimmock; On Behalf Of The Rcigm Investigators Jeffrey J Gold
Journal:  Pediatr Neurol       Date:  2018-07-10       Impact factor: 3.372

Review 7.  Emerging role of the KCNT1 Slack channel in intellectual disability.

Authors:  Grace E Kim; Leonard K Kaczmarek
Journal:  Front Cell Neurosci       Date:  2014-07-28       Impact factor: 5.505

8.  Antiepileptic Effects of a Novel Non-invasive Neuromodulation Treatment in a Subject With Early-Onset Epileptic Encephalopathy: Case Report With 20 Sessions of HD-tDCS Intervention.

Authors:  Oded Meiron; Rena Gale; Julia Namestnic; Odeya Bennet-Back; Nigel Gebodh; Zeinab Esmaeilpour; Vladislav Mandzhiyev; Marom Bikson
Journal:  Front Neurosci       Date:  2019-05-29       Impact factor: 4.677

9.  Loss of non-canonical KCC2 functions promotes developmental apoptosis of cortical projection neurons.

Authors:  Martin Puskarjov; Martina Mavrovic; Pavel Uvarov; Eric Delpire; Laszlo Vutskits; Kai Kaila
Journal:  EMBO Rep       Date:  2020-02-17       Impact factor: 8.807

Review 10.  RAVE and Rabconnectin-3 Complexes as Signal Dependent Regulators of Organelle Acidification.

Authors:  Michael C Jaskolka; Samuel R Winkley; Patricia M Kane
Journal:  Front Cell Dev Biol       Date:  2021-06-24
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