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      Dravet syndrome: a new causative SCN1A mutation?

      case-report

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          Key Clinical Message

          Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.

          Abstract

          Dravet syndrome is often caused by SCN1A mutations and has a wide variation in clinical appearance. Indication for genetic analysis should be an epileptic encephalopathy or severe clinical course of seizures in infants with episodes of fever before the first year of life.

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          Most cited references17

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          De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy.

          L. Claes, J Del-Favero, B Ceulemans … (2001)
          Severe myoclonic epilepsy of infancy (SMEI) is a rare disorder that occurs in isolated patients. The disease is characterized by generalized tonic, clonic, and tonic-clonic seizures that are initially induced by fever and begin during the first year of life. Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development stagnates around the second year of life. Missense mutations in the gene that codes for a neuronal voltage-gated sodium-channel alpha-subunit (SCN1A) were identified in families with generalized epilepsy with febrile seizures plus (GEFS+). GEFS+ is a mild type of epilepsy associated with febrile and afebrile seizures. Because both GEFS+ and SMEI involve fever-associated seizures, we screened seven unrelated patients with SMEI for mutations in SCN1A. We identified a mutation in each patient: four had frameshift mutations, one had a nonsense mutation, one had a splice-donor mutation, and one had a missense mutation. All mutations are de novo mutations and were not observed in 184 control chromosomes.
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            Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome.

            R. Ellis, A Brunklaus, Catherine Reavey … (2012)
            Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no large studies have systematically examined the prognostic, clinical and demographic features of the disease. We prospectively collected data on a UK cohort of individuals with Dravet syndrome during a 5-year study period and analysed demographic information based on UK population and birth figures. From structured referral data we examined a range of clinical characteristics including epilepsy phenotype, seizure precipitants, electroencephalography data, imaging studies, mutation class and response to medication. Predictors of developmental outcome were determined by logistic regression. We identified 241 cases with SCN1A mutation-positive Dravet syndrome, 207 of which were UK-based. The incidence of mutation-positive Dravet syndrome is at least 1:40 900 UK births. Clinical features predicting a worse developmental outcome included status epilepticus (odds ratio = 3.1; confidence interval = 1.5-6.3; P = 0.003), interictal electroencephalography abnormalities in the first year of life (odds ratio = 5.7; confidence interval = 1.9-16.8; P = 0.002) and motor disorder (odds ratio = 3.3; confidence interval = 1.7-6.4; P < 0.001). No significant effect was seen for seizure precipitants, magnetic resonance imaging abnormalities or mutation class (truncating versus missense). Abnormal magnetic resonance imaging was documented in 11% of cases, principally with findings of non-specific brain atrophy or hippocampal changes. Sodium valproate, benzodiazepines and topiramate were reported as being the most helpful medications at the time of referral. Aggravation of seizures was reported for carbamazepine and lamotrigine. The identification of factors influencing prognosis both aids counselling and encourages early, syndrome-specific therapy. Prevention of status epilepticus with regular medication and emergency protocols is important and may influence developmental outcome.
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              Genotype-phenotype associations in SCN1A-related epilepsies.

              S. A. Zuberi, I W G Forbes, William R Birch … (2011)
              Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+, or develop a severe epilepsy such as Dravet syndrome. Our objective was to examine whether the nature of a SCN1A mutation affects the epilepsy phenotype. We retrospectively evaluated clinical and genetic data from 273 individuals with SCN1A mutations identified in our laboratory and reviewed data from 546 published cases. We examined whether the mutation class or distribution or nature of amino acid substitution correlated with the epilepsy phenotype, using the Grantham Score (GS) as a measure of physicochemical difference between amino acids. Compared to missense mutations, truncating mutations were associated with earlier mean onset of prolonged seizures (7.4 vs 8.8 months; p = 0.040), myoclonic seizures (16.4 vs 19.4 months; p = 0.041), and atypical absence seizures (19.1 vs 30.6 months; p = 0.001). The median GS was higher in patients with Dravet syndrome compared to polymorphisms (94 vs 58; p = 0.029) and orthologs (94 vs 45; p < 0.001). A high GS was correlated with early onset of seizures (r(s) = -0.235; p = 0.008). Missense mutations occurred most frequently in the voltage and ion-pore regions where changes in amino acid polarity were greater in the Dravet group compared to the genetic epilepsy with febrile seizures plus group (3.6 vs 2.7; p = 0.031). These findings help define the clinical significance of specific SCN1A mutations based on mutation class and amino acid property and location.
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                Author and article information

                Contributors
                Martin Poryo: martin.poryo@uks.eu
                Journal
                Journal ID (nlm-ta): Clin Case Rep
                Journal ID (iso-abbrev): Clin Case Rep
                Journal ID (doi): 10.1002/(ISSN)2050-0904
                Journal ID (publisher-id): CCR3
                Title: Clinical Case Reports
                Publisher: John Wiley and Sons Inc. (Hoboken )
                ISSN (Electronic): 2050-0904
                Publication date (Electronic): 18 March 2017
                Publication date Collection: May 2017
                Volume: 5
                Issue: 5 ( doiID: 10.1002/ccr3.2017.5.issue-5 )
                Pages: 613-615
                Affiliations
                [ 1 ] Department of Pediatric CardiologySaarland University Hospital Homburg/SaarGermany
                [ 2 ] Department of Pediatrics and NeonatologySaarland University Hospital Homburg/SaarGermany
                [ 3 ]Gemeinschaftspraxis für Humangenetik Homburg/SaarGermany
                [ 4 ] Department of Pediatric NeurologySaarland University Hospital Homburg/SaarGermany
                Author notes
                [*] [* ] Correspondence

                Martin Poryo, Department of Pediatric Cardiology, Saarland University Hospital, Kirrberger Straße, 66421 Homburg/Saar, Germany. Tel: +49 6841 16‐28374; Fax: +49 6841 16‐28452; E‐mail: martin.poryo@ 123456uks.eu

                Article
                Publisher ID: CCR3787
                DOI: 10.1002/ccr3.787
                PMC ID: 5412774
                PubMed ID: 28469861
                SO-VID: 726a4891-5543-4f26-965f-44dd0a14cd14
                Copyright © © 2017 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.
                License:

                This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.

                History
                Date received : 04 May 2016
                Date revision received : 15 November 2016
                Date accepted : 28 November 2016
                Page count
                Figures: 0, Tables: 0, Pages: 3, Words: 1799
                Categories
                Subject: Case Report
                Subject: Case Reports
                Custom metadata
                source-schema-version-number 2.0
                component-id ccr3787
                cover-date May 2017
                details-of-publishers-convertor Converter:WILEY_ML3GV2_TO_NLMPMC version:5.0.9 mode:remove_FC converted:02.05.2017

                Keywords: channelopathy,dravet syndrome,scn1a,severe myoclonic epilepsy of infancy
                Data availability:
                Keywords: channelopathy, dravet syndrome, scn1a, severe myoclonic epilepsy of infancy

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