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Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation

Pediatric neurology, 2015-06, Vol.52 (6), p.642-646.e1

2015

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Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation

Pediatrics (Evanston), 2018-04, Vol.141 (Suppl 5), p.S390-S394

2018

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A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions

Journal of Clinical Neurology, 2017, 13(3), , pp.300-302

2017

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Posterior reversible encephalopathy syndrome and autoimmunity

Autoimmunity reviews, 2023-02, Vol.22 (2), p.103239, Article 103239

2023

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O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

The Journal of biological chemistry, 2018-07, Vol.293 (27), p.10810-10824

2018

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Tourette syndrome is associated with recurrent exonic copy number variants

Neurology, 2010-05, Vol.74 (20), p.1583-1590

2010

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Sibling response to initial antiepileptic medication predicts treatment success

Epilepsy research, 2017-10, Vol.136, p.84-87

2017

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Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss

Neurology, 2018-02, Vol.90 (7)

2018

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Expanding the neurodevelopmental phenotype of PURA syndrome

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.56-67

2018

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Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder

Annals of neurology, 2011-05, Vol.69 (5), p.901-904

2011

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Exome Sequencing Identifying Dual Mutations in Calcium Signaling Genes GNAO1 and ATP2B3 in a Patient with Early Infantile Epileptic Encephalopathy

Journal of pediatric neurology, 2017-08, Vol.15 (4), p.183-186

2017

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Exome sequencing and diffusion tensor imaging in developmental disabilities

Pediatric research, 2014-03, Vol.75 (3), p.443-447

2014

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SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism

Pediatric neurology, 2013-07, Vol.49 (1), p.46-49

2013

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Non-syndromic patients with infantile spasms and malformations of cortical development: absence of seizures in siblings

Journal of the International Child Neurology Association, 2015-02

2015

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A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions

Journal of clinical neurology (Seoul, Korea), 2017, Vol.13 (3), p.300-302

2017

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Association of Reelin gene polymorphisms with autism

Genomics (San Diego, Calif.), 2006, Vol.87 (1), p.75-83

2006

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Abnormal Language Pathway in Children With Angelman Syndrome

Pediatric neurology, 2011-05, Vol.44 (5), p.350-356

2011

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Association of Y Chromosome Haplotypes With Autism

Journal of child neurology, 2009-10, Vol.24 (10), p.1258-1261

2009

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Episodic Ataxia Type 1 (K‐channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype

Movement disorders clinical practice (Hoboken, N.J.), 2017-09, Vol.4 (5), p.784-786

2017

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Novel FDG-PET Findings in Anti-NMDA Receptor Encephalitis: A Case Based Report

Journal of Child Neurology, 2011-10, Vol.26 (10), p.1325-1328

2011

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Homozygous Myotonic Dystrophy With Craniosynostosis

Journal of child neurology, 2008-08, Vol.23 (8), p.930-933

2008

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No association between single nucleotide polymorphisms in DLX6 and piccolo genes at 7q21-q22 and autism

American journal of medical genetics, 2003-05, Vol.119B (1), p.98-101

2003

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Gamma Distribution and its Application of Spatially Monitoring Meteorological Drought in Barind, Bangladesh

Journal of environmental science & natural resources, 2013-04, Vol.5 (2), p.287-293

2013

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Recognition of English vowels in isolated speech using characteristics of Bengali accent

2013 2nd International Conference on Advances in Electrical Engineering (ICAEE), 2013, p.405-410

2013

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A Study of Novel Polymorphisms in the Upstream Region of Vasoactive Intestinal Peptide Receptor Type 2 Gene in Autism

Journal of child neurology, 2001-05, Vol.16 (5), p.357-363

2001

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Homozygous Mutation in Synaptic Vesicle Glycoprotein 2A Gene Results in Intractable Epilepsy, Involuntary Movements, Microcephaly, and Developmental and Growth Retardation

Clinical Benefit of NMDA Receptor Antagonists in a Patient With ATP1A2 Gene Mutation

A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions

Posterior reversible encephalopathy syndrome and autoimmunity

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

Tourette syndrome is associated with recurrent exonic copy number variants

Sibling response to initial antiepileptic medication predicts treatment success

Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss

Expanding the neurodevelopmental phenotype of PURA syndrome

Exome sequencing of a pedigree with tourette syndrome or chronic tic disorder

Exome Sequencing Identifying Dual Mutations in Calcium Signaling Genes GNAO1 and ATP2B3 in a Patient with Early Infantile Epileptic Encephalopathy

Exome sequencing and diffusion tensor imaging in developmental disabilities

SCN2A Mutation Is Associated With Infantile Spasms and Bitemporal Glucose Hypometabolism

Non-syndromic patients with infantile spasms and malformations of cortical development: absence of seizures in siblings

A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions

Association of Reelin gene polymorphisms with autism

Abnormal Language Pathway in Children With Angelman Syndrome

Association of Y Chromosome Haplotypes With Autism

Episodic Ataxia Type 1 (K‐channelopathy) Manifesting as Paroxysmal Nonkinesogenic Dyskinesia: Expanding the Phenotype

Novel FDG-PET Findings in Anti-NMDA Receptor Encephalitis: A Case Based Report

Homozygous Myotonic Dystrophy With Craniosynostosis

No association between single nucleotide polymorphisms in DLX6 and piccolo genes at 7q21-q22 and autism

Gamma Distribution and its Application of Spatially Monitoring Meteorological Drought in Barind, Bangladesh

Recognition of English vowels in isolated speech using characteristics of Bengali accent

A Study of Novel Polymorphisms in the Upstream Region of Vasoactive Intestinal Peptide Receptor Type 2 Gene in Autism

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