Epilepsie & ernstige mentale retardatie: (nieuwe) genen en genotype-fenotype correlatie

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1 Epilepsie & ernstige mentale retardatie: (nieuwe) genen en genotype-fenotype correlatie dr. Hannah Stamberger prof. dr. Peter De Jonghe Neurogenetics group, DMG, VIB

2 Disclosures No disclosures to report.

3 Outline 1. Introduction epileptic encephalopathies 2. Monogenetic epilepsy syndromes 3. Copy number variants 4. Research & diagnostics 5. What about therapy?

4 Outline 1. Introduction epileptic encephalopathies 2. Monogenetic epilepsy syndromes 3. Copy number variants 4. Research & diagnostics 5. What about therapy?

5 A brief history 1995: CHRNA4 and ADNFLE (Steinlein et al. 1995) Large families, Linkage, Sanger sequencing 2002: de novo mutations in SCN1A - Dravet syndrome (Claes et al. 2002) 2005: Next generation Sequencing (NGS) becomes commercially available 2009: first gene discovery with WES: DHODH - Miller syndrome (Nat Genet Jan;42(1):30-5. doi: /ng.499. Epub 2009 Nov 13.) Anno 2016: Third generation seq/ Massive parallel seq? > 60 genes associated with epilepsy (OMIM 2015: 32 known genes for EIEE)

6 > 40 different epilepsy syndromes

7 Classification (Berg et al 2010) Epileptic encephalop.

8 Epileptic encephalopathy Berg et al. 2010: the epileptic activity itself may contribute to severe cognitive and behavioral impairments above and beyond what might be expected from the underlying pathology alone (e.g., cortical malformation), and that these can worsen over time Revision on the way?

9 Aetiology of epilepsy Thomas, R. H. & Berkovic, S. F. (2014), Nat. Rev. Neurol. doi: /nrneurol

10 Outline 1. Introduction epileptic encephalopathies 2. Monogenetic epilepsy syndromes 3. Copy number variants 4. Research & diagnostics 5. What about therapy?

11 Mendelian inheritance Autosomal dominant (large families) Autosomal recessive Dominant de novo X-linked

12 STXBP1: syntaxin binding protein 1

13 2008: Saitsu et al.: LoF mutations STXBP1 - Ohtahara syndrome current: phenotypic expansion : West, Dravet, Non syndromic epilepsy + intelectual disability (ID), ID without epilepsy (!), autism Study newly diagnosed patients 132 reported patients > 150 patients discribed in literature. Parisi et al. Italian Journal of Pediatrics :58 doi: /

14 Figure 1: Spectrum of STXBP1-associated phenotypes (Dx at onset)

15 Table 1: Summary of clinical features of STXBP1-E epilepsy approximately 95% of patients most frequent seizure types are epileptic spasms (65.3%), focal seizures (57.9%) and tonic seizures (41.3%) seizure freedom is achieved in more than 1 in 3 patients, almost 1 in 3 remain therapy resistant EEG > 60% focal or multifocal epileptic activity burst-suppression (35.9%) and hypsarrhythmia (40%) are frequent EEG findings intellectual disability all patients, majority has severe to profound ID (88.4%) behavioral problems autism or autistic features are seen in almost 1 in 5 patients motor features (axial) hypotonia, ataxia or ataxic gait, (intentional) tremor, spasticity and dyskinesia and/or dystonia are frequently seen imaging (brain MRI) normal in almost 1/2 cerebral atrophy (33.3%), thin corpus callosum (16.2 %) and hypomyelination or delayed myelination (16.2%) are frequent (age related) findings

16 STXBP1- encephalopathy No clear correlation between age at seizure onset, seizure duration or age when seizure free and cognitive outcome Prognosis 1/3 seizure free Pharmacotherapeutic response: LEV? VGB? VPA? 88 % severe - profound ID Future: Disease modifying therapy? > Protein-protein interaction inhibition (Hussain et al.2014)

17 Case 1: 27 year old female Negative family history Age 18 mo: first seizures, fever sensitive Development slowed, refractory szs MRI: negative FU in UZA since 2010: multiple hospital admissions (SE!!, aspiration pneumonia, anemia,.. ) Dravet-like? Genetic work up SCN1A seq negative 2014: Gene panel with > 50 genes for DS/MAE : negative WES...

18 KCNT1 (Slack, chr.9) Heron et al, Nature Genetics 2012

19 2012: first mutations described in ADNFLE (autosomal dominant nocturnal frontal lobe epilepsy) and MMFSI (malignant migrating focal seizures of infancy) 2012 current: expansion of phenotype to EOEE, focal epilepsies and cardiac arrythmias

20 Mutation effect: GoF? Millegan et al, Ann, Neurol Apr;75(4): doi: /ana Epub 2014 Apr 14.

21 Precision medicine: Quinidine? Millegan et al, Ann, Neurol Apr;75(4): doi: /ana Epub 2014 Apr 14.

22 Outline 1. Introduction epileptic encephalopathies 2. Monogenetic epilepsy syndromes 3. Copy number variants 4. Research & diagnostics 5. What about therapy?

23 Deletion Duplication Insertion Translocation

24 Copy number variants (CNVs) Important risk factor for epilepsy Array-CGH (whole genome oligonucleotide array comparative genomic hybridization) is often included in the evaluation of patients when a genetic aetiology is suspected Recent epilepsy studies show that CNVs are detected in up to 6% of patients Established syndromes associated with epilepsy Hotspots predisposing to epilepsy: 1q21.1, 15q11.2, 15q13.3, 15q11-q13, 16p11.2, 16p13.11

25 Olsen et al, Ann Neurol. 2014

26 Outline 1. Introduction epileptic encephalopathies 2. Monogenetic epilepsy syndromes 3. Copy number variants 4. Research & diagnostics 5. What about therapy?

27 Genetic discoveries associated with epilepsy Ion channels SCN1A, SCN2A, SCN8A, SCN9A KCNQ2, KCNQ3, KCNT1, KCNH1 CACNA1A, CACNA1H, CACNB4 HCN1 Metabolic ALG13 ALDH7A1 PNKP PNPO SLC12A5 SLC13A5 SLC25A22 SLC2A1 Synaptic transport ARHGEF9 DNM1 GPHN NECAP1 PCDH19 PRRT2 SNAP25 STXBP1 SV2A SYNGAP1 TBC1D14 STX1B Transcription regulators/ Signal transduction ARX CDKL5 CHD2 FOXG1 MECP2 QARS GNAO1 WWOX CNV hotspots 1q21.1, 15q q q11-q13, 16p11.2, 16p13.11 Neurotransmitter receptors GRIN2A, GRIN2B GABRA1 GABBRG2, GABBRB3 CHRNA2, CHRNA4,

28 Genetic overlap intelectual disability schizophrenia autism childhood epilepsies Li J. et al. Mol. Psychiatry (2015)

29 Genetic testing in epilepsy Case 2: 10 yr old boy Born 40 wk, normal neonatal development Age 5 mo: febrile szs Development slowed, refractory sz: myoclonic, tonic clonic, atypical absences, temperature sensitive Worsening of szs with LTG MRI: negative EEG: slow background, unilateral and generalized SWC Genetic work-up?

30 Q: Which genetic test would you ask first? A. Array CGH B. Diagnostic panel (ca 20 genes) C. Whole exome/genome sequencing D. SCN1A sequencing

31 Whole exome sequencing/ whole genome sequencing Thomas, R. H. & Berkovic, S. F. (2014), Nat. Rev. Neurol. doi: /nrneurol

32

33

34

35 Q: Which parameters would you take into account when classifying a variant as pathogenic? A. Absent in control population (ExAC, 1000 genomes, dbsnp..) B. Should already be reported as pathogenic (clinvar) C. de novo occurence (when phenotype is isolated) D. There should be functioal evidence (e.g. electrophysiology) E. F. Combination

36 Guidelines? benign pathogenic likely benign uncertain significance likely pathogenic

37 Importance of genetic testing Patient Counseling Treatment strategy Community Research Data curation

38 Counseling - recurrence risk Recessive ¼ (2 parents carrier) 1 x carrier frequency x ¼ (1 parent carrier) Dominant ½ De novo no recurrence risk? CAVE: germline mosaicism

39 Patient registries Clinvar (NCBI) SCN1A SCN1A Variant Database (DMG, VIB) SCN1A mutation database (Collaborative Innovation Center for Neurogenetics and Channelopathies, Guangzhou , China.) The SCN1A infobase (UC Davis Medical Center, Department of Neurology) KCNQ2/3: (collaboration Baylor College of Medicine, USA; University of Molise, Italy; University of Antwerp, Belgium) Future initiatives: STXBP1, Epilepsiome,? epilepsygenetics.net

40 Outline 1. Introduction epileptic encephalopathies 2. Monogenetic epilepsy syndromes 3. Copy number variants 4. Research & diagnostics 5. What about therapy?

41 Therapeutic options Symptomatic, supportive anti-epileptic drugs fysiotherapy, logotherapy, counseling Precision medicine mutation oriented: existing & new compounds gene therapy? + search for good biomarkers to monitor treatment effect GOAL: disease modifying therapy

42 e.g. mtor pathway mtor inhibitors - everolimus - sirolimus DEPDC5 NPRL2 NPRL3

43 Take home messages The aetiology of about 40% of all epilepsies is assumed to have a major genetic contribution Genetic epilepsies are heterogeneous disorders with significant genetic overlap with other developmental diseases Next generation sequencing is available in research and diagnostic centers, a simple blood sample can do the trick A genetic diagnosis has consequences for both patient and community

44 Acknowledgements Neurogenetics group: Peter De Jonghe Sarah Weckhuysen Jonathan Baets Tania Djémié Inès Mademan Jolien Roovers Willem De Ridder Tine Deconinck Katia Hardies Rik Hendrickx Patients and families Collaborators

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