POSTER SESSION 5: Genetics
Tracks
POSTER AREA
| Thursday, September 19, 2019 |
| 12:15 PM - 1:00 PM |
| POSTER AREA (Balcony Muses Foyer) |
Overview
P05-01 to P05-52
Speaker
Doç. Dr. Aysima Ozcelik
Gaziantep Sahinbey EAH
P05-02 | Rare combination of Oculo Cutaneous Albinism and MEGDEL Syndrome in one patient
Prof. Faruk Incecik
Cukurova Universitesi Tip Fakultesi
P05-03 | Different clinical manifestations of TREX1 mutation: a case series
Dr. Alexandra Wagner
Department Of Pediatrics, University Hospital Erlangen, Germany
P05-04 | Mitochondrial DNA Depletion Syndrome 7 (OMIM #271245) – A case report of a Rare Hepatocerebral Disease
Dr. Aliz Zimmermann
University Of Szeged Department of Pediatrics and Pediatric Health Center
P05-05 | Rare monogenic causes of Microcephaly: clinical and genetic heterogeneity in a Hungarian cohort
Mrs. Ayca Dilruba Aslanger
Bezmialem University
P05-06 | TRAPPC12 related progressive Encephalopathy: 2 cases and expanding phenotype
Dr. Biayna Sukhudyan
Department of Pediatric Neurology, "Arabkir" MC
P05-07 | Cerebellar Atrophy and Cerebellar Cortex Hyperintensity – Think about Christianson Syndrome
Dr. Cem Paketci
Dokuz Eylul University Faculty Of Medicine
P05-08 | Poretti Boltshauser Syndrome: a novel variant in LAMA1 gene
Dr. Charoula Siafaka
Bristol Royal Hospital For Children
P05-09 | A novel CACNA1A variant in a child with Hemiplegia and Coma – A case report highlighting the importance of early history
Dr. Carol Stephens
Cork University Hospital
P05-10 | Likely pathogenic GARS variant associated with infantile onset Spinobulbar Muscular Atrophy
Dr. Cristina Anghelescu
Alexandru Obregia Clinical Hospital
P05-11 | Partial trisomy of chromosome 13 – A rare cause of developmental delay, Epilepsy and brain malformation
Dr. Davide Tonduti
V. Buzzi Children’s Hospital, Milano
P05-12 | Novel mutations in MCT8 associated with a less severe phenotype of MCT8 Deficiency
Dr. Emanuele Coci
Institute For Neuropediatrics And Social Pediatrics
P05-13 | Pyruvate Carboxylase Deficiency Type A and Type C: a genotype-phenotype correlation
Dr. Filipa Rodrigues
Hospital Coimbra
P05-14 | Hypokalemic Periodic Paralysis due to a new mutation in CACNA1S gene
Dr. Ganna Balagura
Università Degli Studi Di Genova
P05-15 | The Italian cohort of STXBP1 mutated patients: phenotypic spectrum and novel mutations
Dr. Gautam Ambegaonkar
Addenbrookes Hospital
P05-16 | Jordan's Syndrome: A rare cause of Macrocephaly, Hypotonia and Epilepsy associated with mutation in the PPP2R5D gene
Dr. Gaziza Koregen
Kazakh Medical University Of Continuing Education
P05-17 | Description of the clinical case of Cockayne Syndrome
Dr. Jessica Gencarelli
Dipartimento di Scienze Mediche, Sezione di Pediatria, Università di Ferrara
P05-18 | The phenotype spectrum of PURA Syndrome: report of three cases
Dr. Jin Sook Lee
Gachon Gil Medical Center
P05-19 | Ataxia as the presenting feature of Juvenile-Onset Alexander Disease
Dr. Joana Martins
Centro Materno Infantil Do Norte
P05-20 | MECP2 gene anomalies are not synonymous with Rett Syndrome
Dr. Karen Jahnke
Skanes University Hospital
P05-21 | Survey concerning ultra-rare diseases and parental understanding
Dr. Katerina Vezyroglou
UCL GOS Institute Of Child Health
P05-22 | The puzzling variability of ATP1A3-Related Disease: 5 new mutations resulting in 5 separate phenotypes
Dr. Katherine Anagnostopoulou
Genomedica
P05-23 | Genetic analysis of Early-Onset Epileptic Encephalopathies; 8-year experience
Mr. Kazuo Kodama
Chiba Children's Hospital, Japan
P05-24 | A case of Early-Infantile Onset, Rapidly Progressive Leukoencephalopathy with calcifications and cysts caused by mutations in SNORD118
Dr. Kyung Eun Nam
Seoul St. Mary’s Hospital, College of Medicine, The Catholic University of Korea
P05-25 | Novel Heterozygous Missense Mutation c.92A>G in the LMNA gene: a case study
Dr. Lilach Shemer- Meiri
Pediatric Neurology Unit, Carmel Medical Center
P05-26 | A first report of homozygous missense mutation in the ADCY5 gene, related to an Autosomal Dominant Dyskynesia Syndrome
Dr. Magdalena Budisteanu
1. “prof. Dr. Alex. Obregia” Clinical Hospital Of Psychiatry
P05-27 | Genetic anomalies in siblings with intellectual disabilities
Dr. Malgorzata Pawlowicz
Department Of Pathophysiology, UWM Olsztyn
P05-28 | Probable dysfunction of GABA-A receptors in patients with GNAO1-Related Syndromes – An example of four clinical cases
Dr. Malgorzata Pawlowicz
Department Of Pathophysiology, UWM Olsztyn
P05-29 | Can the clinical spectrum of Epileptic Encephalopathy associated with SYNGAP1 mutation be extended to include some lysosomal features? – An example of two clinical cases
Dr. Nataliya Smulska
Neurology Department, Pediatric Hospital №1
P05-30 | SCN2A mutation: different genotype and phenotype, clinical cases
Dr. Noelle Enright
Our Ladies Children's Hospital Crumlin
P05-31 | Expanding the phenotype of PIGA variants in Early Onset Epilepsy
Dr. Robert Spaull
Bristol Royal Hospital for Children
P05-32 | Late-infantile Neuronal Ceroid Lipofuscinosis presenting in a child of West African ethnicity with a novel TPP1/CLN2 mutation
Dr. Samyami Chowdhury
Oxford John Radcliffe Hospital
P05-33 | Periventricular Nodular Heterotopia with genetic mutation in Filamin A; a rare case
Dr. Manali Chitre
Cambridge University Hospitals Nhs Foundation Trust
P05-34 | Clinical Heterogeneity of CACNA1A mutations in childhood including Hyperekplexia and Global Developmental Delay
Dr. Serhat Guler
Istanbul University-cerrahpasa
P05-35 | RANBP2 mutation in a Turkish child with Recurrent Acute Necrotizing Encephalopathy
Dr. Tadashi Shiohama
Chiba University
P05-36 | Brain morphologic study in Rett and Rett-Like Syndrome with MECP2 mutation
Dr. Tinatin Tkemaladze
Tbilisi State Medical University
P05-37 | Novel SLC9A6 mutation in a family with X-linked Intellectual Disability, mimicking Angelman Syndrome
Ms. Zoe McCallum
Royal Children's Hospital
P05-38 | Genomics at the paediatric coalface: equipping Australian non-genetic specialist paediatricians with skills to practise in the genomic era
Dr. Alfonso Amado Puentes
Clin. Amado
P05-39 | Practical implications of genetic diagnosis through Array-CGH
Mr. Juho Aaltio
University Of Helsinki
P05-40 | Whole-exome sequencing as an early diagnostic tool in children with Progressive Neurological Disorders
Dr. Almudena Chacon Pascual
Hospital Gregorio Marañon
P05-41 | Epileptic-Dyskinetic Encephalopathy caused by a mutation in the SCN8A gene: a case of neonatal onset
Mrs. Andrea Gangfuß
University Children’s Hospital Essen
P05-42 | Intellectual disability associated with dysmorphism, cleft palate, congenital heart defect and behavioural anomalies due to a de novo MEIS2 mutation
Dr. Hyunji Ahn
Asan Medical Center
P05-43 | A case of Eosinophilic Meningitis accompanied by Phaeohyphomycosis due to Exophiala Dermatitidis
Dr. Maria Spanou
Attikon University Hospital
P05-44 | IRF2BPL mutation causing a neurodegenerative phenotype with Movement Disorder and Bulbar Palsy
Mrs. Olga Rybalko
V. I. Vernadsky Crimean Federal University Medical Academy
P05-45 | A Williams-Beuren Syndrome with chromosome 16p12.2-p11.2 deletion or undeclared new syndrome
Mrs. Sema Bozkaya Yılmaz
Sbu Tepecik Training And Research Hospital
P05-46 | A new compound heterozygous mutation in Ataxia-Telangiectasia: a case report
Mrs. María Victoria Tóffoli
Hospital Sant Joan De Déu
P05-47 | Rapid onset Coreodystonia without Parkinsonism due to mutation in the ATP1A3 gene
Mrs. María Victoria Tóffoli
Hospital Sant Joan De Déu
P05-48 | PTEN-related Disorders. Phenotypic description in a series of paediatric patients
Prof. Alec Aeby
Queen Fabiola Children's Hospital
P05-49 | CACNA1A mutation presenting as early onset Developmental Encephalopathy without Epilepsy: presentation of two cases
Prof. Dr. Biserka Rešić
Faculty of Medicine, University of Split
P05-50 | New mutation CACNA1A and its clinical manifestations
Prof. Ilknur Erol
Dr. Turgut Noyan Adana Teaching and Medical Research Center
Baskent Universitesi Adana Uygulama Ve Arastirma Hastanesi
P05-51 | Two siblings with a novel mutation in RIN2 gene associated with Epilepsy, further expanding the clinical spectrum
Prof. Ilknur Erol
Dr. Turgut Noyan Adana Teaching and Medical Research Center
Baskent Universitesi Adana Uygulama Ve Arastirma Hastanesi
P05-52 | A very early-onset Isolated Dystonia associated with DYT1 gene
Chair
Maria Kinali
Imperial College London And Hca Healthcare Uk
Sotirios Youroukos
First Department of Paediatrics, Athens University Medical School, "St. Sophia" Children's Hospital
