1
College of Medicine, King Saud University, Riyadh, Saudi Arabia
2
Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia
,
Abrar Hudairi
2
Division of Pediatric Neurology, Department of Pediatrics, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia
,
Malak Al Ghamdi
1
College of Medicine, King Saud University, Riyadh, Saudi Arabia
3
Division of Medical Genetics, Department of Pediatrics, College of Medicine, King Khalid University Hospital, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia
,
Adel A. Mahmoud
4
Department of Pediatric Neurology, National Neuroscience Institute, King Fahad Medical City, Riyadh, Saudi Arabia
› Author AffiliationsFunding This work was funded by the College of Medicine Research Center, Deanship of Scientific Research, King Saud University, Saudi Arabia.
Neonatal 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.
1
Scheffer IE,
Berkovic S,
Capovilla G.
, et al. ILAE classification of the epilepsies: position paper of the ILAE Commission for Classification and Terminology. Epilepsia 2017; 58 (04) 512-521
2
Ogiwara I,
Ito K,
Sawaishi Y.
, et al. De novo mutations of voltage-gated sodium channel alphaII gene SCN2A in intractable epilepsies. Neurology 2009; 73 (13) 1046-1053
3
Yokoi T,
Enomoto Y,
Tsurusaki Y,
Naruto T,
Kurosawa K.
Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy. Hum Genome Var 2018; 5: 20
5
Lakhan R,
Kumari R,
Misra UK,
Kalita J,
Pradhan S,
Mittal B.
Differential role of sodium channels SCN1A and SCN2A gene polymorphisms with epilepsy and multiple drug resistance in the north Indian population. Br J Clin Pharmacol 2009; 68 (02) 214-220
9
Dilena R,
Striano P,
Gennaro E.
, et al. Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy. Brain Dev 2017; 39 (04) 345-348
11
Baasch AL,
Hüning I,
Gilissen C.
, 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. Epilepsia 2014; 55 (04) e25-e29
12
Ko A,
Jung DE,
Kim SH.
, et al. The efficacy of ketogenic diet for specific genetic mutation in developmental and epileptic encephalopathy. Front Neurol 2018; 9 (530) 530
14
Wong VC,
Fung CW,
Kwong AK.
SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet. Brain Dev 2015; 37 (07) 729-732
15
Su DJ,
Lu JF,
Lin LJ,
Liang JS,
Hung KL.
SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet. Brain Dev 2018; 40 (08) 724-727
