A patient with early myoclonic encephalopathy (EME) with a de novo KCNQ2 mutation

2018 ◽  
Vol 40 (1) ◽  
pp. 69-73 ◽  
Author(s):  
Karin Kojima ◽  
Kentaro Shirai ◽  
Mizuki Kobayashi ◽  
Akihiko Miyauchi ◽  
Hirotomo Saitsu ◽  
...  
Keyword(s):  
De Novo ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy

Ketogenic diet in early myoclonic encephalopathy due to non ketotic hyperglycinemia

2012 ◽  
Vol 16 (5) ◽  
pp. 509-513 ◽  
Author(s):  
Raffaella Cusmai ◽  
Diego Martinelli ◽  
Romina Moavero ◽  
Carlo Dionisi Vici ◽  
Federico Vigevano ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy

scholarly journals Repetitive EEG recordings are necessary for the diagnosis of early myoclonic encephalopathy

2005 ◽  
Vol 53 (2) ◽  
pp. 235 ◽  
Author(s):  
Hamit Ozyurek ◽  
Guzide Turanli ◽  
Didem Aliefendioglu ◽  
Turgay Coskun
Keyword(s):  
Eeg Recordings ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy

KCNT1-Related Epilepsy: A Review

2021 ◽  
Author(s):  
Valeria Venti ◽  
Lina Ciccia ◽  
Bruna Scalia ◽  
Laura Sciuto ◽  
Carla Cimino ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Unexpected Death ◽  
Gain Of Function ◽  
Nocturnal Frontal Lobe Epilepsy ◽  
Ohtahara Syndrome ◽  
Sodium Dependent ◽  
Cardiac Disorders ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy ◽  
Genotype Correlation

Abstract KCNT1 gene encodes the sodium-dependent potassium channel reported as a causal factor for several different epileptic disorders. The gene has been also linked with cardiac disorders and in a family to sudden unexpected death in epilepsy. KCNT1 mutations, in most cases, result in a gain of function causing a neuronal hyperpolarization with loss of inhibition. Many early-onset epileptic encephalopathies related to gain of function of KCNT1 gene have been described, most often associated with two phenotypes: malignant migrating focal seizures of infancy and familial autosomal-dominant nocturnal frontal lobe epilepsy; however, there is no clear phenotype–genotype correlation, in fact same mutations have been represented in patients with West syndrome, Ohtahara syndrome, and early myoclonic encephalopathy. Additional neurologic features include intellectual disability, psychiatric disorders, hypotonia, microcephaly, strabismus, and movement disorders. Conventional anticonvulsant, vagal stimulation, and ketogenic diet have been used in the absence of clinical benefit in individuals with KCNT1-related epilepsy; in some patients, quinidine therapy off-label has been practiced successfully. This review aims to describe the characteristics of the gene, the phenotypes related to genetic mutations with the possible genotype–phenotype correlations and the treatments proposed to date, discussing the comorbidities reported in the literature.

scholarly journals Ade novomissense mutation ofGABRB2causes early myoclonic encephalopathy

2016 ◽  
Vol 54 (3) ◽  
pp. 202-211 ◽  
Author(s):  
Atsushi Ishii ◽  
Jing-Qiong Kang ◽  
Cara C Schornak ◽  
Ciria C Hernandez ◽  
Wangzhen Shen ◽  
...  
Keyword(s):  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy

scholarly journals Early myoclonic encephalopathy caused by a disruption of the neuregulin-1 receptor ErbB4

2008 ◽  
Vol 17 (3) ◽  
pp. 378-382 ◽  
Author(s):  
Liesbeth Backx ◽  
Berten Ceulemans ◽  
Joris Robert Vermeesch ◽  
Koen Devriendt ◽  
Hilde Van Esch
Keyword(s):  
Neuregulin 1 ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy

A case of early myoclonic encephalopathy with intractable seizures successfully treated with high-dose phenobarbital

2019 ◽  
Vol 41 (8) ◽  
pp. 717-720
Author(s):  
Takuya Kosaka ◽  
Genrei Ohta ◽  
Hiroshi Kometani ◽  
Masao Kawatani ◽  
Yusei Ohshima
Keyword(s):  
High Dose ◽  
Intractable Seizures ◽  
Myoclonic Encephalopathy ◽  
Early Myoclonic Encephalopathy
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