Sonal Desai

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

Andreea Manole, Stéphanie Efthymiou, Emer O’Connor, Marisa I. S. Mendes et autres

Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neurodevelopmental delay, seizures, peripheral neuropathy, and ataxia, with de …

gb, nl, ca, us, pk, fr, tr, ch, de, dk (code pays fourni par la source)

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Keren Machol, Justine Rousseau, Sophie Ehresmann, Thomas Xavier Garcia et autres

us, ca, nl, es, au, gb, fr (code pays fourni par la source)

Neurologic phenotypes associated with COL4A1 / 2 mutations

Sara Zagaglia, Christina Selch, Jelena Radić Nišević, Davide Mei et autres

Objective To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype–phenotype correlation. Methods We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with COL4A1/COL4A2 mutations. Results Childhood-onset focal seizures, frequently complicated by status …

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De Novo HECW2 Mutation Associated With Epilepsy, Developmental Decline, and Intellectual Disability: Case Report and Review of Literature

Natalie L. Ullman, Constance L. Smith‐Hicks, Sonal Desai, Carl E. Stafstrom

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Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP

Anke Van Dijck, Anneke T. Vulto‐van Silfhout, Elisa Cappuyns, Ilse M. van der Werf et autres

be, nl, de, us, il, it, se, fr (code pays fourni par la source)

Mutations in Kv7.5 Channels Associated with Intellectual Disability or Epileptic Encephalopathy

Anna M. Lehman, Samrat Thouta, Grazia M. S. Mancini, Marjon van Slegtenhorst et autres

ca, nl, us (code pays fourni par la source)

Monogenic disorders that mimic the phenotype of Rett syndrome

Siddharth Srivastava, Sonal Desai, Julie S. Cohen, Constance L. Smith‐Hicks et autres

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Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes

Carolien G. F. de Kovel, Steffen Syrbe, Eva H. Brilstra, Nienke E. Verbeek et autres

Importance: Knowing the range of symptoms seen in patients with a missense or loss-of-function variant in KCNB1 and how these symptoms correlate with the type of variant will help clinicians with diagnosis and prognosis when treating new patients. Objectives: To investigate the …

nl, de, gb, us, dk, tr, il (code pays fourni par la source)

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy

Anna M. Lehman, Samrat Thouta, Grazia M. S. Mancini, Sakkubai Naidu et autres

ca, nl, us (code pays fourni par la source)

De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features

Emily Webster, Megan T. Cho, Nora Alexander, Sonal Desai et autres

Using whole-exome sequencing, we have identified novel de novo heterozygous pleckstrin homology domain-interacting protein (PHIP) variants that are predicted to be deleterious, including a frameshift deletion, in two unrelated patients with common clinical features of developmental delay, intellectual disability, anxiety, hypotonia, poor …

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Gain-of-Function Mutations inRARBCause Intellectual Disability with Progressive Motor Impairment

Myriam Srour, Véronique Caron, Toni S. Pearson, Sarah B. Nielsen et autres

Retinoic acid (RA) signaling plays a key role in the development and function of several systems in mammals. We previously discovered that the de novo mutations c.1159C>T (p.Arg387Cys) and c.1159C>A (p.Arg387Ser) in the RA Receptor Beta (RARB) gene cause microphthalmia and diaphragmatic …

ca, us, it, fr, gb (code pays fourni par la source)

Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation

Christian Gund, Zöe Powis, Wendy A. Alcaraz, Sonal Desai et autres

We evaluated a 13-year-old East Pakistani male affected with microcephaly, apparent intellectual disability, hypotonia, and brisk reflexes without spasticity. His parents were first cousins. The patient also had a brother who was similarly affected and died at 10 years due to an …

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