Saadet Mercimek-Mahmutoglu

Saadet Mercimek-Mahmutoglu

UNVERIFIED PROFILE

Are you Saadet Mercimek-Mahmutoglu?   Register this Author

Register author
Saadet Mercimek-Mahmutoglu

Saadet Mercimek-Mahmutoglu

Publications by authors named "Saadet Mercimek-Mahmutoglu"

Are you Saadet Mercimek-Mahmutoglu?   Register this Author

57Publications

1728Reads

48Profile Views

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Authors:
Fadi F Hamdan Candace T Myers Patrick Cossette Philippe Lemay Dan Spiegelman Alexandre Dionne Laporte Christina Nassif Ousmane Diallo Jean Monlong Maxime Cadieux-Dion Sylvia Dobrzeniecka Caroline Meloche Kyle Retterer Megan T Cho Jill A Rosenfeld Weimin Bi Christine Massicotte Marguerite Miguet Ledia Brunga Brigid M Regan Kelly Mo Cory Tam Amy Schneider Georgie Hollingsworth David R FitzPatrick Alan Donaldson Natalie Canham Edward Blair Bronwyn Kerr Andrew E Fry Rhys H Thomas Joss Shelagh Jane A Hurst Helen Brittain Moira Blyth Robert Roger Lebel Erica H Gerkes Laura Davis-Keppen Quinn Stein Wendy K Chung Sara J Dorison Paul J Benke Emily Fassi Nicole Corsten-Janssen Erik-Jan Kamsteeg Frederic T Mau-Them Ange-Line Bruel Alain Verloes Katrin Õunap Monica H Wojcik Dara V F Albert Sunita Venkateswaran Tyson Ware Dean Jones Yu-Chi Liu Shekeeb S Mohammad Peyman Bizargity Carlos A Bacino Vincenzo Leuzzi Simone Martinelli Bruno Dallapiccola Marco Tartaglia Lubov Blumkin Klaas J Wierenga Gabriela Purcarin James J O'Byrne Sylvia Stockler Anna Lehman Boris Keren Marie-Christine Nougues Cyril Mignot Stéphane Auvin Caroline Nava Susan M Hiatt Martina Bebin Yunru Shao Fernando Scaglia Seema R Lalani Richard E Frye Imad T Jarjour Stéphanie Jacques Renee-Myriam Boucher Emilie Riou Myriam Srour Lionel Carmant Anne Lortie Philippe Major Paola Diadori François Dubeau Guy D'Anjou Guillaume Bourque Samuel F Berkovic Lynette G Sadleir Philippe M Campeau Zoha Kibar Ronald G Lafrenière Simon L Girard Saadet Mercimek-Mahmutoglu Cyrus Boelman Guy A Rouleau Ingrid E Scheffer Heather C Mefford Danielle M Andrade Elsa Rossignol Berge A Minassian Jacques L Michaud

Am J Hum Genet 2017 Nov;101(5):664-685

Centre Hospitalier Universitaire Sainte-Justine Research Center, Montreal, QC H3T1C5, Canada; Department of Neurosciences, Université de Montréal, Montreal, QC H3T1J4, Canada; Department of Pediatrics, Université de Montréal, Montreal, QC H3T1C5, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2017.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673604PMC
November 2017

A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.

Pediatr Neurol 2017 Sep 1;74:87-91.e2. Epub 2017 Jun 1.

Division of Neurology, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Pediatrics, University of Toronto, Toronto, Ontario Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2017.05.022DOI Listing
September 2017

Variable expressivity of a likely pathogenic variant in KCNQ2 in a three-generation pedigree presenting with intellectual disability with childhood onset seizures.

Am J Med Genet A 2017 Aug 11;173(8):2226-2230. Epub 2017 Jun 11.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38281DOI Listing
August 2017

Long-term outcome of patients with X-linked adrenoleukodystrophy: A retrospective cohort study.

Eur J Paediatr Neurol 2017 Jul 21;21(4):600-609. Epub 2017 Feb 21.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2017.02.006DOI Listing
July 2017

BCAP31-associated encephalopathy and complex movement disorder mimicking mitochondrial encephalopathy.

Am J Med Genet A 2017 Jun 23;173(6):1640-1643. Epub 2017 Mar 23.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38127DOI Listing
June 2017

Phenotype, biochemical features, genotype and treatment outcome of pyridoxine-dependent epilepsy.

Metab Brain Dis 2017 04 23;32(2):443-451. Epub 2016 Nov 23.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s11011-016-9933-8DOI Listing
April 2017

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.

Mol Genet Metab 2017 03 3;120(3):235-242. Epub 2017 Jan 3.

Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Institute of Medical Sciences, University of Toronto, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2016.12.014DOI Listing
March 2017

Epileptic Encephalopathy in Childhood: A Stepwise Approach for Identification of Underlying Genetic Causes.

Indian J Pediatr 2016 Oct 29;83(10):1164-74. Epub 2016 Jan 29.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario, M5G 1X8, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s12098-015-1979-9DOI Listing
October 2016

Arginine-Glycine Amidinotransferase Deficiency and Functional Characterization of Missense Variants in GATM.

Hum Mutat 2016 09 27;37(9):926-32. Epub 2016 Jun 27.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, M5G 1×8, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.23018DOI Listing
September 2016

MED23-associated refractory epilepsy successfully treated with the ketogenic diet.

Am J Med Genet A 2016 09 17;170(9):2421-5. Epub 2016 Jun 17.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.37802DOI Listing
September 2016

Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.

Pediatr Neurol 2016 09 4;62:58-61. Epub 2016 Jun 4.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2016.03.020DOI Listing
September 2016

A Prospective Case Study of the Safety and Efficacy of Lysine-Restricted Diet and Arginine Supplementation Therapy in a Patient With Pyridoxine-Dependent Epilepsy Caused by Mutations in ALDH7A1.

Pediatr Neurol 2016 07 13;60:60-5. Epub 2016 Apr 13.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2016.03.008DOI Listing
July 2016

Loss-of-Function Mutations in FRRS1L Lead to an Epileptic-Dyskinetic Encephalopathy.

Am J Hum Genet 2016 06 26;98(6):1249-1255. Epub 2016 May 26.

Children's Health Research Center, Sanford Research, Sioux Falls, SD 57104, USA; Department of Child Health, University of Arizona College of Medicine, Phoenix, AZ 85004, USA; Neurogenetics Research Program, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA; Program in Neuroscience, Arizona State University, Tempe, AZ 85287, USA; Pediatric Movement Disorders Center, Barrow Neurological Institute, Phoenix Children's Hospital, Phoenix, AZ 85016, USA. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2016.04.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4908178PMC
June 2016

Carrier frequency of guanidinoacetate methyltransferase deficiency in the general population by functional characterization of missense variants in the GAMT gene.

Mol Genet Genomics 2015 Dec 24;290(6):2163-71. Epub 2015 May 24.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/s00438-015-1067-xDOI Listing
December 2015

New Paradigm for the Treatment of Glucose Transporter 1 Deficiency Syndrome: Low Glycemic Index Diet and Modified High Amylopectin Cornstarch.

Pediatr Neurol 2015 Sep 26;53(3):243-6. Epub 2015 Jun 26.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, Canada. Electronic address:

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/S08878994150032
Publisher Site
http://dx.doi.org/10.1016/j.pediatrneurol.2015.06.018DOI Listing
September 2015

Pyridox(am)ine-5-Phosphate Oxidase Deficiency Treatable Cause of Neonatal Epileptic Encephalopathy With Burst Suppression: Case Report and Review of the Literature.

J Child Neurol 2015 Aug 7;30(9):1218-25. Epub 2014 Oct 7.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, Canada Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Canada

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073814550829DOI Listing
August 2015

Estimated carrier frequency of creatine transporter deficiency in females in the general population using functional characterization of novel missense variants in the SLC6A8 gene.

Gene 2015 Jul 8;565(2):187-91. Epub 2015 Apr 8.

Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada; Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.gene.2015.04.011DOI Listing
July 2015

Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.

Epilepsia 2015 May 25;56(5):707-16. Epub 2015 Mar 25.

Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1111/epi.12954DOI Listing
May 2015

Long-term treatment outcome of two patients with pyridoxine-dependent epilepsy caused by ALDH7A1 mutations: normal neurocognitive outcome.

J Child Neurol 2015 Apr 1;30(5):648-53. Epub 2014 May 1.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada Genetics and Genome Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada

View Article

Download full-text PDF

Source
http://journals.sagepub.com/doi/10.1177/0883073814531331
Publisher Site
http://dx.doi.org/10.1177/0883073814531331DOI Listing
April 2015

Severe scoliosis in a patient with severe methylenetetrahydrofolate reductase deficiency.

Brain Dev 2015 Jan 13;37(1):168-70. Epub 2014 Apr 13.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, The Hospital for Sick Children, Toronto, Canada; Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.braindev.2014.03.003DOI Listing
January 2015

Novel therapy for pyridoxine dependent epilepsy due to ALDH7A1 genetic defect: L-arginine supplementation alternative to lysine-restricted diet.

Eur J Paediatr Neurol 2014 Nov 27;18(6):741-6. Epub 2014 Jul 27.

Department of Psychology, The Hospital for Sick Children, Toronto, ON, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ejpn.2014.07.001DOI Listing
November 2014

The natural history of glycogen storage disease types VI and IX: Long-term outcome from the largest metabolic center in Canada.

Mol Genet Metab 2014 Nov 21;113(3):171-6. Epub 2014 Sep 21.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2014.09.005DOI Listing
November 2014

Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

Pediatr Neurol 2014 Aug 28;51(2):262-5. Epub 2014 Mar 28.

Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Genetics & Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, Ontario, Canada. Electronic address:

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2014.03.020DOI Listing
August 2014

Case study for the evaluation of current treatment recommendations of guanidinoacetate methyltransferase deficiency: ineffectiveness of sodium benzoate.

Pediatr Neurol 2014 Jul 21;51(1):133-7. Epub 2014 Feb 21.

Department of Medical Genetics, University of Alberta, Edmonton, Alberta, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.pediatrneurol.2014.02.011DOI Listing
July 2014

Thirteen new patients with guanidinoacetate methyltransferase deficiency and functional characterization of nineteen novel missense variants in the GAMT gene.

Hum Mutat 2014 Apr 6;35(4):462-9. Epub 2014 Mar 6.

Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Canada; Metabolic Laboratory, Department of Clinical Chemistry, VU University Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22511DOI Listing
April 2014

Fetal onset ventriculomegaly and subependymal cysts in a pyridoxine dependent epilepsy patient.

Pediatrics 2014 Apr 24;133(4):e1092-6. Epub 2014 Mar 24.

Department of Medical Genetics, University of Alberta, Stollery Children's Hospital, Edmonton, Canada; and.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2013-1230DOI Listing
April 2014

Lysine-restricted diet and mild cerebral serotonin deficiency in a patient with pyridoxine-dependent epilepsy caused by genetic defect.

Mol Genet Metab Rep 2014 1;1:124-128. Epub 2014 Apr 1.

Biochemical Genetics Laboratory, Department of Laboratory Medicine, University of Toronto, The Hospital for Sick Children, Toronto, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgmr.2014.02.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5121319PMC
April 2014

Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?

J Child Neurol 2013 Nov 10;28(11):1500-1504. Epub 2012 Sep 10.

1Department of Medical Genetics, University of British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1177/0883073812458538DOI Listing
November 2013

Profound neonatal hypoglycemia and lactic acidosis caused by pyridoxine-dependent epilepsy.

Pediatrics 2012 May 23;129(5):e1368-72. Epub 2012 Apr 23.

Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1542/peds.2011-0123DOI Listing
May 2012

Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up.

Mol Genet Metab 2011 Sep-Oct;104(1-2):48-60. Epub 2011 May 24.

Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver BC, Canada V6H 3V4.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.05.014DOI Listing
January 2012

Evaluation of two year treatment outcome and limited impact of arginine restriction in a patient with GAMT deficiency.

Mol Genet Metab 2012 Jan 6;105(1):155-8. Epub 2011 Oct 6.

Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, BC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.09.037DOI Listing
January 2012

Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion.

Mol Genet Metab 2011 Nov 26;104(3):410-3. Epub 2011 Jul 26.

Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.07.021DOI Listing
November 2011

Late-onset nonketotic hyperglycinemia caused by a novel homozygous missense mutation in the GLDC gene.

Mol Genet Metab 2011 Jun 22;103(2):193-6. Epub 2011 Feb 22.

Division of Biochemical Diseases, Department of Pediatrics, University of British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2011.02.009DOI Listing
June 2011

Treatment of intractable epilepsy in a female with SLC6A8 deficiency.

Mol Genet Metab 2010 Dec 26;101(4):409-12. Epub 2010 Aug 26.

Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, UBC, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2010.08.016DOI Listing
December 2010

Pseudohypoparathyroidism type 1a and the GNAS p.R231H mutation: Somatic mosaicism in a mother with two affected sons.

Am J Med Genet A 2010 Nov;152A(11):2784-90

Child and Family Research Institute, University of British Columbia, Vancouver, British Columbia, Canada.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.33172DOI Listing
November 2010

Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type I/Hurler.

World J Pediatr 2009 Nov 13;5(4):319-21. Epub 2009 Nov 13.

Division of Biochemical Diseases, Department of Pediatrics, British Columbia Children's Hospital, Vancouver, Canada.

View Article

Download full-text PDF

Source
http://link.springer.com/10.1007/s12519-009-0062-x
Publisher Site
http://dx.doi.org/10.1007/s12519-009-0062-xDOI Listing
November 2009

Screening for X-linked creatine transporter (SLC6A8) deficiency via simultaneous determination of urinary creatine to creatinine ratio by tandem mass-spectrometry.

Mol Genet Metab 2009 Apr 1;96(4):273-5. Epub 2009 Feb 1.

Department of Pediatrics, Division of Biochemical Diseases, British Columbia Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, BC, Canada V6H 3V4.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2008.12.020DOI Listing
April 2009

Long-term follow-up of patients with congenital hyperinsulinism in Austria.

J Pediatr Endocrinol Metab 2008 Jun;21(6):523-32

Department of Pediatrics, Medical University Vienna, Vienna, Austria.

View Article

Download full-text PDF

Source
June 2008

Neurological and brain MRS findings in patients with Gaucher disease type 1.

Mol Genet Metab 2007 Aug 8;91(4):390-5. Epub 2007 Jun 8.

Department of Pediatrics, Medical University Vienna, Austria.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2007.03.009DOI Listing
August 2007

Biochemical and clinical characteristics of creatine deficiency syndromes.

Acta Biochim Pol 2004 ;51(4):875-82

Division of Metabolic Diseases, Department of Pedatrics, Children's Memorial Health Institute, Warsaw, Poland.

View Article

Download full-text PDF

Source
http://dx.doi.org/045104875DOI Listing
August 2005

Fright is a provoking factor in vanishing white matter disease.

Ann Neurol 2005 Apr;57(4):560-3

Department of Pediatrics/Child Neurology, Vrije Universiteit Medical Center, Amsterdam, The Netherlands.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/ana.20418DOI Listing
April 2005