ATP1A3 -related epileptic encephalopathy responding to ketogenic diet

2018 ◽  
Vol 40 (5) ◽  
pp. 433-438 ◽  
Author(s):  
Tommaso Schirinzi ◽  
Federica Graziola ◽  
Raffaella Cusmai ◽  
Lucia Fusco ◽  
Francesco Nicita ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Epileptic Encephalopathy

Beneficial effects of the ketogenic diet on drug-resistant epileptic encephalopathy associated with a de novo NBEA pathogenic variant

2021 ◽  
Vol 23 (5) ◽  
pp. 739-743
Author(s):  
Silvia Schiavoni ◽  
Carlotta Spagnoli ◽  
Susanna Rizzi ◽  
Grazia Gabriella Salerno ◽  
Daniele Frattini ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
De Novo ◽  
Epileptic Encephalopathy ◽  
Pathogenic Variant ◽  
Drug Resistant ◽  
Beneficial Effects

A Case of Neonatal Epileptic Encephalopathy due to SCN2A Mutation Responsive to a Ketogenic Diet

2018 ◽  
Vol 07 (04) ◽  
pp. 148-151 ◽  
Author(s):  
Fahad A. Bashiri ◽  
Abrar Hudairi ◽  
Malak Al Ghamdi ◽  
Adel A. Mahmoud
Keyword(s):  
Ketogenic Diet ◽  
Treatment Modality ◽  
Genetic Diagnosis ◽  
Febrile Seizures ◽  
Epileptic Encephalopathy ◽  
Intractable Seizures ◽  
Ohtahara Syndrome ◽  
Newborn Girl ◽  
Generalized Epilepsy ◽  
Febrile Seizures Plus

AbstractNeonatal seizures may have multiple causes including metabolic and genetic etiologies. If a genetic diagnosis is known, it can guide the physician to choose the most appropriate treatment modality. SCN2A mutation is a rare cause of epileptic encephalopathy in the neonatal age group. It has a wide phenotypic variation, ranging from benign familial epilepsy to a malignant form of epilepsy. This mutation has been associated with Ohtahara syndrome, migrating focal seizures of infancy, West syndrome, Lennox–Gastaut syndrome, and generalized epilepsy with febrile seizures plus. We present the case of a newborn girl who presented with multiple types of seizures, starting at the age of 3 days. Our initial investigations were not able to identify the etiology of her intractable seizures. Whole exome sequencing confirmed an SCN2A mutation. Various antiepileptic drugs (AEDs), including phenobarbitone, phenytoin, levetiracetam, topiramate, vigabatrin, carbamazepine, clonazepam, and mexiletine, were tried. However, none provided an optimal response. She ultimately showed a dramatic response to the ketogenic diet (KD). This report highlights the effectiveness of the KD as a treatment modality for SCN2A mutation-related epileptic encephalopathy, particularly when seizures are intractable and unresponsive to conventional AEDs.

scholarly journals The ketogenic diet is effective for refractory epilepsy associated with acquired structural epileptic encephalopathy

2018 ◽  
Vol 60 (7) ◽  
pp. 718-723 ◽  
Author(s):  
Mel Michel Villaluz ◽  
Lysa Boissé Lomax ◽  
Trupti Jadhav ◽  
J Helen Cross ◽  
Ingrid E Scheffer
Keyword(s):  
Ketogenic Diet ◽  
Refractory Epilepsy ◽  
Epileptic Encephalopathy

scholarly journals Ketogenic Diet in Infants with Early-Onset Epileptic Encephalopathy and SCN2A Mutation

2021 ◽  
Vol 62 (4) ◽  
pp. 370
Author(s):  
Xiaoyu Tian ◽  
Yange Zhang ◽  
Jinhong Zhang ◽  
Yan Lu ◽  
Xinyi Men ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Early Onset ◽  
Epileptic Encephalopathy

Single-Epileptic Spasms with or without Hypsarrhythmia: A Study of 16 Patients

2017 ◽  
Vol 06 (03) ◽  
pp. 149-155
Author(s):  
Raffaele Falsaperla ◽  
Robinson Gutierrez ◽  
Gabriela Valenzuela ◽  
Piero Pavone ◽  
Sebastian Fortini ◽  
...  
Keyword(s):  
Antiepileptic Drugs ◽  
Ketogenic Diet ◽  
Adrenocorticotropic Hormone ◽  
Main Type ◽  
Epileptic Encephalopathy ◽  
Unknown Etiology ◽  
Epileptic Spasms ◽  
Before And After ◽  
Eeg Recordings ◽  
Electroencephalogram Eeg

Objective We evaluated the electroclinical features, etiology, treatment, and outcome of 16 patients with single-epileptic spasms (ESs) with or without hypsarrhythmia (WoH). Methods Nine boys and seven girls had single-ESs. ESs were considered as single epileptic spasm variants when no other spasm occurred for 1 minute before and after each spasm. Age at the onset of ESs was between 2 and 84 months, with a mean age of 11 months. Results We recognized a group of 15 patients with single-ESs as the main type of seizure; 6 patients with WoH and 9 patients with hypsarrhythmia, respectively. Nine of these 15 patients had other types of seizures before the onset of single-ESs, and 12 patients had other types of seizures during the period in which the ESs occurred. Nine of 15 patients had a structural and seven had an unknown etiology. In 10 cases, the ESs were refractory to antiepileptic drugs, while 4 patients responded well to adrenocorticotropic hormone (ACTH), 1 to pyridoxine, and 2 to the ketogenic diet (KD). The remaining patient (patient.16) had single-ESs and electroclinical features of Lennox–Gastaut syndrome (LGS). Conclusion In this article, we present a series of infants who had daily single-ESs with or WoH. Those with single-ESs with hypsarrhythmia evolved to an epileptic encephalopathy. Video-electroencephalogram (EEG) and polygraphic-EEG recordings are crucial to identify the single-ESs.

Ketogenic diet – A novel treatment for early epileptic encephalopathy due to PIGA deficiency

2016 ◽  
Vol 38 (9) ◽  
pp. 848-851 ◽  
Author(s):  
Charuta Joshi ◽  
Diana L. Kolbe ◽  
M. Adela Mansilla ◽  
Sara Mason ◽  
Richard J.H. Smith ◽  
...  
Keyword(s):  
Ketogenic Diet ◽  
Epileptic Encephalopathy ◽  
Novel Treatment

Ketogenic diet in patients with epileptic encephalopathy with electrical status epilepticus during slow sleep

2015 ◽  
Vol 113 ◽  
pp. 126-131 ◽  
Author(s):  
Gabriela Reyes ◽  
Santiago Flesler ◽  
Marisa Armeno ◽  
Sebastian Fortini ◽  
Agustinho Ariela ◽  
...  
Keyword(s):  
Status Epilepticus ◽  
Ketogenic Diet ◽  
Epileptic Encephalopathy ◽  
Slow Sleep

scholarly journals Ketogenic diet effects on 52 children with pharmacoresistant epileptic encephalopathy: A clinical prospective study

2018 ◽  
Vol 8 (5) ◽  
pp. e00973 ◽  
Author(s):  
Qiong Wu ◽  
Hua Wang ◽  
Yu Ying Fan ◽  
Jun Mei Zhang ◽  
Xue Yan Liu ◽  
...  
Keyword(s):  
Prospective Study ◽  
Ketogenic Diet ◽  
Epileptic Encephalopathy

P 605. Epileptic Encephalopathy Caused by Mitochondrial MPC-1 Deficiency Can Benefit from Ketogenic Diet—Significance of Early Genetic Testing for a Targeted Therapy

2018 ◽  
Author(s):  
Annick Klabunde-Cherwon ◽  
Saskia Wortmann-Hagemann ◽  
Holger Prokisch ◽  
Steffen Syrbe ◽  
Georg Hoffmann ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Targeted Therapy ◽  
Ketogenic Diet ◽  
Epileptic Encephalopathy
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