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Genetics of hereditary neurological disorders in children

author

Yue Huang

published in: Translational pediatrics

date of publication: 2014-04-01

Cites articles 45

Date

Title

Authors

2014-01-08

Huntington disease: who seeks presymptomatic genetic testing, why and what are the outcomes?
2013-06-17

The genetics of dystonia: new twists in an old tale

Kailash Phatechand Bhatia, Nicholas W. Wood
2013-05-06

Phenomenology and classification of dystonia: a consensus update

Kailash Phatechand Bhatia, Alberto Albanese, Anthony Lang, Joseph Jankovic, Christine Klein, Stanley Fahn, Mark Hallett, Jonathan W Mink, Mahlon DeLong, Susan Bressman
2013-04-01

Genetics of the epilepsies: where are we and where are we going?

Daniel H. Lowenstein
2013-01-30

The child's right to an open future: is the principle applicable to non-therapeutic circumcision?
2013-01-21

A survey of tools for variant analysis of next-generation genome sequencing data

Michael R. Speicher, Rene Snajder, Stephan Pabinger, Zlatko Trajanoski, Andreas Dander, Mirjana Efremova
2013-01-18

Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics

Zbigniew K Wszolek
2013-03-21

Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions
2013-07-26

Mutation analysis of PRRT2 in two Chinese BFIS families and nomenclature of PRRT2 related paroxysmal diseases.
2013-02-08

Next-generation sequencing technologies for personalized medicine: promising but challenging
2012-10-26

Unraveling the genetics of common epilepsies: approaches, platforms, and caveats
2012-10-21

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Jean-Laurent Casanova, Arnold Munnich, Nathalie Boddaert, Patrick Nitschké, Giulia Barcia, Anna Kaminska, Laurence Colleaux, Maéva Langouët, Isabelle Desguerre, Avinash Abhyankar, Olivier Dulac, Rima Nabbout
2012-07-20

The Prevalence of Juvenile Huntington's Disease: A Review of the Literature and Meta-Analysis

Oliver Bandmann, Mark Strong
2012-09-04

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

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2012-08-10

Exome sequencing followed by large-scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsy

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2012-06-01

Empirical evaluation of age groups and age-subgroup analyses in pediatric randomized trials and pediatric meta-analyses

John Ioannidis, Despina Contopoulos-Ioannidis, Lisa Hartling, Denise Thomson, Iva Seto, Evelyn Constantin, Gitanjali Batmanabane, Terry P Klassen
2012-06-01

Standard 6: age groups for pediatric trials

John Ioannidis, Despina Contopoulos-Ioannidis, Lisa Hartling, Denise Thomson, Iva Seto, Evelyn Constantin, Gitanjali Batmanabane, Terry P Klassen
2012-04-04

De novo mutations revealed by whole-exome sequencing are strongly associated with autism
2012-12-21

Novel PRRT2 mutations in paroxysmal dyskinesia patients with variant inheritance and phenotypes
2012-11-26

Epilepsy with cognitive deficit and autism spectrum disorders: prospective diagnosis by array CGH.
2012-04-19

Microdeletions detected using chromosome microarray in children with suspected genetic movement disorders: a single-centre study.
2012-10-21

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Karen Oliver, Sarah E Heron, Ingrid Scheffer, Lino Nobili, Giuseppe Plazzi, Samuel Berkovic, Amos D. Korczyn, Steven Petrou, Leanne Dibbens
2012-05-01

Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations

Katja Lohmann, Christine Klein, Alexander Schmidt
2012-07-31

Familial PRRT2 mutation with heterogeneous paroxysmal disorders including paroxysmal torticollis and hemiplegic migraine
2012-12-01

Genetic testing in child neurology
2012-04-19

The clinical utility of chromosomal microarray in childhood neurological disorders
2011-12-01

Rare copy number variants are an important cause of epileptic encephalopathies

Tally Lerman-Sagie, Jacinta M McMahon, Deepak Gill, Ingrid Scheffer, Samuel Berkovic, Lynette Sadleir, Heather C. Mefford, Evan E. Eichler
2011-11-26

Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias

Sheng-Di Chen
2011-12

Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia
2011-03-01

Lysosomal storage disorders: molecular basis and laboratory testing
2011-03-01

Detection of interruptions in the GAA trinucleotide repeat expansion in the FXN gene of Friedreich ataxia

Simone M Rowley, Martin Delatycki
2010-12-01

Mitochondrial genetic diseases

Marni Falk

Article - wd:Q36508637

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