scholarly journals Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric Aciduria

2014 ◽  
pp. 111-115 ◽  
Author(s):  
Pankaj Prasun ◽  
Sarah Young ◽  
Gajja Salomons ◽  
Andrea Werneke ◽  
Yong-hui Jiang ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Clinical Spectrum ◽  
Facial Dysmorphism ◽  
Citrate Carrier

scholarly journals Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

2021 ◽  
Vol 22 (6) ◽  
pp. 2824
Author(s):  
Jan H. Döring ◽  
Julian Schröter ◽  
Jerome Jüngling ◽  
Saskia Biskup ◽  
Kerstin A. Klotz ◽  
...  
Keyword(s):  
Neurological Disorders ◽  
Transmembrane Domain ◽  
Potassium Conductance ◽  
Epileptic Encephalopathy ◽  
Clinical Spectrum ◽  
The Novel ◽  
Developmental Abnormalities ◽  
Pathogenic Variants ◽  
Infantile Seizures ◽  
Early Developmental

Pathogenic variants in KCNA2, encoding for the voltage-gated potassium channel Kv1.2, have been identified as the cause for an evolving spectrum of neurological disorders. Affected individuals show early-onset developmental and epileptic encephalopathy, intellectual disability, and movement disorders resulting from cerebellar dysfunction. In addition, individuals with a milder course of epilepsy, complicated hereditary spastic paraplegia, and episodic ataxia have been reported. By analyzing phenotypic, functional, and genetic data from published reports and novel cases, we refine and further delineate phenotypic as well as functional subgroups of KCNA2-associated disorders. Carriers of variants, leading to complex and mixed channel dysfunction that are associated with a gain- and loss-of-potassium conductance, more often show early developmental abnormalities and an earlier onset of epilepsy compared to individuals with variants resulting in loss- or gain-of-function. We describe seven additional individuals harboring three known and the novel KCNA2 variants p.(Pro407Ala) and p.(Tyr417Cys). The location of variants reported here highlights the importance of the proline(405)–valine(406)–proline(407) (PVP) motif in transmembrane domain S6 as a mutational hotspot. A novel case of self-limited infantile seizures suggests a continuous clinical spectrum of KCNA2-related disorders. Our study provides further insights into the clinical spectrum, genotype–phenotype correlation, variability, and predicted functional impact of KCNA2 variants.

scholarly journals A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

2018 ◽  
Vol 103 (4) ◽  
pp. 631 ◽  
Author(s):  
Heather E. Olson ◽  
Nolwenn Jean-Marçais ◽  
Edward Yang ◽  
Delphine Heron ◽  
Katrina Tatton-Brown ◽  
...  
Keyword(s):  
De Novo ◽  
Missense Variant ◽  
Epileptic Encephalopathy ◽  
Facial Dysmorphism ◽  
Neonatal Onset

scholarly journals RHOBTB2 gene associated epilepsy and paroxysmal movement disorder: two cases report and literature review

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Xueyang Niu ◽  
Yan Sun ◽  
Ying Yang ◽  
Miaomiao Cheng ◽  
Quanzhen Tan ◽  
...  
Keyword(s):  
Movement Disorders ◽  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Epileptic Encephalopathy ◽  
Facial Dysmorphism ◽  
Pathogenic Genes ◽  
Magnetic Resonance Imaging Mri ◽  
Case Presentations ◽  
Focal Status Epilepticus ◽  
Electroencephalogram Eeg

Abstract Background RHOBTB2 gene is associated with developmental and epileptic encephalopathy-64(DEE-64), which is characterized by epilepsy, developmental delay, microcephaly, unspecific facial dysmorphism, and paroxysmal movement disorders. Most previous studies showed that the phenotypes of RHOBTB2 gene include developmental and epileptic encephalopathy(DEE) and DEE with paroxysmal movement disorders. Only one study showed that patient with RHOBTB2 variant had paroxysmal movement disorders with no epilepsy. Case presentations Two cases with RHOBTB2 variants are presented here: Case one was diagnosed as DEE, he had recurrent afebrile focal status epilepticus and paroxysmal extrapyramidal symptoms in infancy. Interictal electroencephalogram (EEG) showed focal discharges. Brain magnetic resonance imaging (MRI) showed cortical dysplasia. Epilepsy of case one was refractory. Nevertheless, case two only showed paroxysmal movement disorders alone in adolescence. Video EEG showed focal discharges during an interictal dystonic episode and he brain MRI was normal. Conclusion The phenotypes of RHOBTB2 gene include DEE, paroxysmal movement disorders, and DEE with paroxysmal movement disorders. RHOBTB2 can be one of the pathogenic genes of paroxysmal movement disorders.

Clinical Spectrum in DNM1 Mutation Beyond Epileptic Encephalopathy Type 31

2019 ◽  
Author(s):  
Deike Weiss ◽  
Tajana Bierhals ◽  
Theresia Herget ◽  
Katja Kloth ◽  
Jessika Johannsen ◽  
...  
Keyword(s):  
Epileptic Encephalopathy ◽  
Clinical Spectrum

scholarly journals Clinical spectrum of immunodeficiency, centromeric instability and facial dysmorphism (ICF syndrome)

2007 ◽  
Vol 45 (2) ◽  
pp. 93-99 ◽  
Author(s):  
M M Hagleitner ◽  
A Lankester ◽  
P Maraschio ◽  
M Hulten ◽  
J P Fryns ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Facial Dysmorphism ◽  
Icf Syndrome ◽  
Centromeric Instability

scholarly journals A Recurrent De Novo PACS2 Heterozygous Missense Variant Causes Neonatal-Onset Developmental Epileptic Encephalopathy, Facial Dysmorphism, and Cerebellar Dysgenesis

2018 ◽  
Vol 102 (5) ◽  
pp. 995-1007 ◽  
Author(s):  
Heather E. Olson ◽  
Nolwenn Jean-Marçais ◽  
Edward Yang ◽  
Delphine Heron ◽  
Katrina Tatton-Brown ◽  
...  
Keyword(s):  
De Novo ◽  
Missense Variant ◽  
Epileptic Encephalopathy ◽  
Facial Dysmorphism ◽  
Neonatal Onset

scholarly journals PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature

2017 ◽  
Vol 55 (2) ◽  
pp. 104-113 ◽  
Author(s):  
Margot R F Reijnders ◽  
Robert Janowski ◽  
Mohsan Alvi ◽  
Jay E Self ◽  
Ton J van Essen ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Computational Analysis ◽  
De Novo ◽  
Neurodevelopmental Disorder ◽  
Clinical Spectrum ◽  
Facial Dysmorphism ◽  
De Novo Mutations ◽  
Feeding Difficulties ◽  
Severe Intellectual Disability ◽  
Recurrent Mutations

BackgroundDe novo mutations in PURA have recently been described to cause PURA syndrome, a neurodevelopmental disorder characterised by severe intellectual disability (ID), epilepsy, feeding difficulties and neonatal hypotonia.ObjectivesTo delineate the clinical spectrum of PURA syndrome and study genotype-phenotype correlations.MethodsDiagnostic or research-based exome or Sanger sequencing was performed in individuals with ID. We systematically collected clinical and mutation data on newly ascertained PURA syndrome individuals, evaluated data of previously reported individuals and performed a computational analysis of photographs. We classified mutations based on predicted effect using 3D in silico models of crystal structures of Drosophila-derived Pur-alpha homologues. Finally, we explored genotype-phenotype correlations by analysis of both recurrent mutations as well as mutation classes.ResultsWe report mutations in PURA (purine-rich element binding protein A) in 32 individuals, the largest cohort described so far. Evaluation of clinical data, including 22 previously published cases, revealed that all have moderate to severe ID and neonatal-onset symptoms, including hypotonia (96%), respiratory problems (57%), feeding difficulties (77%), exaggerated startle response (44%), hypersomnolence (66%) and hypothermia (35%). Epilepsy (54%) and gastrointestinal (69%), ophthalmological (51%) and endocrine problems (42%) were observed frequently. Computational analysis of facial photographs showed subtle facial dysmorphism. No strong genotype-phenotype correlation was identified by subgrouping mutations into functional classes.ConclusionWe delineate the clinical spectrum of PURA syndrome with the identification of 32 additional individuals. The identification of one individual through targeted Sanger sequencing points towards the clinical recognisability of the syndrome. Genotype-phenotype analysis showed no significant correlation between mutation classes and disease severity.

The Clinical Spectrum of Anaphylaxis in North-West England

1996 ◽  
Vol 26 (12) ◽  
pp. 1364-1370 ◽  
Author(s):  
R. S. H. Pumphrey ◽  
S. J. Stanworth
Keyword(s):  
Clinical Spectrum ◽  
North West
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