Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant

Okazaki, Taro; Yamada, Hiroyuki; Matsuura, Kaori; Kasagi, Noriko; Miyake, Noriko; Matsumoto, Naomichi; Adachi, Kaori; Nanba, Eiji; Maegaki, Yoshihiro

doi:10.1038/s41439-021-00157-7

Cited by 3 publications

(3 citation statements)

References 9 publications

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“…Brain anomalies were described in 3/7 patients who had an MRI, including ventricular enlargement, sub-ependymal cysts, hypoxic-ischemic-like anomalies, corpus callosum agenesis, and cerebellar atrophy. Brain MRI anomalies are not well established in the literature, involving from grey matter to cerebral spinal fluid and ventricle anomalies 25,26 .…”

Section: Discussionmentioning

confidence: 99%

“…About 500 families are part of the DYRK1A Syndrome International Association (DSIA). According to our acknowledge, there are around 112 patients reported in the literature 1,3,7,[12][13][14][15][16][17][18][19][20][21][22][23][24][25] of whom with chromosomal abnormalities, including large deletions, translocations, inversions, inversion/deletions, and other complex rearrangements, and 87 patients harboring a SNV. Most reported SNVs were frameshift variants, followed by nonsense, missense, and splice site variants 16 .…”

Section: Introductionmentioning

confidence: 97%

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<i>DYRK1A</i>-related intellectual disability syndrome: a cohort of Portuguese patients

Gouveia-Silva,

Rodrigues-Alves,

Dupont

et al. 2024

PJP

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Introduction: DYRK1A heterozygous pathogenic variants have been shown to cause a syndromic form of intellectual disability (ID) with impaired speech development, features of autism spectrum disorder (ASD), microcephaly, and a recognizable facial gestalt that evolves with age. Patients can also present with gait disturbance or hypertonia, epilepsy, brain imaging, ocular, and foot anomalies. Methods: This is a cross-sectional study. Clinical data on patients with DYRK1A pathogenic variants identified at the Clinical Genetics Department of Santa Maria Hospital, in Lisbon, were retrospectively collected from medical records using a detailed clinical questionnaire. Results: We describe eight unrelated patients, six females and two males, aged 4 to 24. Fetal growth restriction (FGR) was present in 5/8, and microcephaly in 7/8. ID, ranging from mild to severe, and language impairment or absent speech were documented in all patients. ASD and/or stereotypic behavior were reported in 6/8. Five patients presented visual anomalies, most commonly optic disc pallor (in 4). Three main facial features were consistently reported: deep-set eyes, thin upper lip, and micro/retrognathia. Foot and hand anomalies were frequent. Discussion/Conclusions: Our cohort illustrates the variable degree of severity of a syndromic form of ID, which includes mild cases. Microcephaly and a typical neurobehavioral phenotype are in accordance with the literature, as well as some common dysmorphisms. Interestingly, optic disc pallor seems to be a frequent finding, highlighting the need for ophthalmological surveillance. Our study adds evidence to the existence of a consistent clinical phenotype of DYRK1A-related ID, hopefully contributing to increased awareness and improving the recognition of this entity.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 97%

<i>DYRK1A</i>-related intellectual disability syndrome: a cohort of Portuguese patients

Gouveia-Silva,

Rodrigues-Alves,

Dupont

et al. 2024

PJP

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“…This protein is expressed in numerous systems and its role is pivotal, especially for neuronal differentiation, neurogenesis, and neurodegeneration ( 2 ) through MAP kinase activation. Because of these reasons, the main features of patients with DYRK1A mutations are intellectual disability, language delay, microcephaly, difficulties in feeding and thriving, developmental retardation, and seizures ( 4 ) as summarized in Table 1 . Other major clinical features comprise autism spectrum disorder, anxiety, and sleeping disorders.…”

Section: Introductionmentioning

confidence: 99%

Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

et al. 2023

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DYRK1A syndrome has been extensively studied primarily with regard to neurologic and other phenotypic features such as skeleton and craniofacial alterations. In the present paper, we aim to highlight unusual anomalies associated with a DYRK1A mutation: a 17-year-old female patient with language and cognitive delay, microcephaly, and an autistic disorder, who was operated upon for spleen torsion with anomalous gut fixation.

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Clinical Value of lncRNA MALAT1 and miR-154-5p in the Severity and Prognosis of Convulsive Status Epilepticus

Zhiwei Huang,

Huang,

Zhang

2024

Neurochem. J.

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Clinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant

Cited by 3 publications

References 9 publications

<i>DYRK1A</i>-related intellectual disability syndrome: a cohort of Portuguese patients

<i>DYRK1A</i>-related intellectual disability syndrome: a cohort of Portuguese patients

Case Report: Gut and spleen anomalies associated with DYRK1A syndrome

Clinical Value of lncRNA MALAT1 and miR-154-5p in the Severity and Prognosis of Convulsive Status Epilepticus

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