A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review

Ye, Yuanzhen; Hu, Zhanqi; Mai, Jiahui; Chen, Li; Cao, Dezhi; Liao, Jianxiang; Duan, Jing

doi:10.3389/fped.2022.759889

Cited by 3 publications

(3 citation statements)

References 17 publications

(27 reference statements)

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“…The SMC1A gene mutation was first described in a patient with rare Cornelia de Lange syndrome (CdLS), characterized by growth retardation and typical facial deformities ( 21 ). There have also been recent reports of phenotypes such as seizures, developmental epileptic encephalopathy, or Rett syndrome ( 22 , 23 ). The phenotypic characteristics of the patient in this particular case were developmental delay, finger deformity, a slow EEG background, multifocal interictal discharges, and uncontrollable focal seizures—all of which were consistent with developmental epileptic encephalopathy.…”

Section: Discussionmentioning

confidence: 99%

Video-electroencephalographic findings and clinical characteristics of bathing seizures in children

Kuang,

Liao,

Fang

et al. 2024

Front. Neurol.

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ObjectiveTo explore the electroencephalogram (EEG) and clinical characteristics of childhood bathing epilepsy.MethodsWe conducted a prospective summary of the clinical data from 10 children with bathing epilepsy who were admitted to Hunan Children’s Hospital from April 2019 to November 2023 and analyzed their EEGs and clinical characteristics.ResultsOur 10 patients included eight males and two females, with seizure-onset ages ranging from 4 months and 20 days to 14 months. Nine cases showed normal intellectual development, and one case manifested delayed development. The Video-EEG (VEEG) findings showed that nine cases exhibited normal background with no interictal epileptic discharge. The seizures were characterized by lip cyanosis, tachycardia or bradycardia, weakness, paleness, and loss of consciousness. Ictal EEG revealed rhythmic fast waves, spike waves, spike-slow waves, or slow and sharp-wave activity over the temporal region (eight cases) or the occipital and temporal regions (one case), finally evolving into a delta rhythm that lasted for 57–201 s. These children exhibited no seizures after discontinuing bathing and were not administered antiseizure medication. The interictal EEG of one case reflected mild slow background and focal interictal epileptic discharge; and her semiology was eyes gazing to right, with clonic movements of the right face and lips, lip cyanosis, bradycardia, and impaired consciousness. Ictal EEG showed spike–wave and spike-slow-wave rhythms over the left central, parietal, and temporal regions; these then spread to the left hemisphere, lasting for approximately 104 s. This patient did not exhibit bathing seizures after stopping her bathing but later experienced frequent spontaneous and drug-resistant seizures. The interictal EEG background slowed down, while focal epileptic discharge increased. Her intellectual development was significantly delayed, and a novel pathogenic mutation in the SMC1A gene, c.298+2T>C, was detected. She was diagnosed with developmental and epileptic encephalopathy.ConclusionA majority of children with bathing epilepsy in our study showed focal autonomic seizures accompanied by impaired consciousness. Stopping bathing could control the seizures and showed a good prognosis. A few infants manifested a poor prognosis, and we posit that bathing seizure rarely constitute the early manifestations of developmental and epileptic encephalopathy. VEEG findings and clinical features can also indicate the prognosis.

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Section: Discussionmentioning

confidence: 99%

Video-electroencephalographic findings and clinical characteristics of bathing seizures in children

Kuang,

Liao,

Fang

et al. 2024

Front. Neurol.

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“…This accumulation leads to motor dysfunction, resulting in spinocerebellar ataxia type 1 [ 11 ]. Recently, it has been suggested that the PUM1 gene causes developmental disorders, specifically Pumilio 1-associated developmental disability, ataxia, and seizure syndrome (PADDAS) [ 12 ]. This supports the evidence that other brain areas located near the cerebellar cortex could be affected by PUM1 mutation.…”

Section: Discussionmentioning

confidence: 99%

Heterozygous Mutation of Sodium Voltage-Gated Channel Alpha Subunit 2 and Pumilio Homolog 1 Genes in a Pediatric Patient: A Case Report

Al-Sharif¹,

Attiah²,

AlKhateeb³

et al. 2022

Cureus

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Epilepsy is a neurological condition brought on by recurrent and spontaneous seizures in patients with hypersynchronous neuronal ensemble activity. These spontaneous seizures appear to be brought on by increased neuronal excitability and synaptic synchronization. The development of neuronal hyperexcitability and acquiring epilepsy is still poorly understood. Cell differentiation and development might be related to the pumilio RNA-binding family member 1 (Pumilio 1 ( PUM1 )). Complete deficiency of this gene causes misregulation of the proteins involved in the control of neuronal excitability. Furthermore, the voltage-gated sodium channels alpha subunit 2 ( SCN2A ) triggers action potentials in brain neurons, and a variety of severe hereditary epilepsy syndromes are caused by their mutation. Here, we present a rare case of a seven-year-old female with co-occurrence of two genetic mutations in the pumilio homolog 1 ( PUM1 ) and sodium voltage-gated channel alpha subunit 2 ( SCN2A ).

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“…The treatment and prognosis of EIEE are challenging, with many cases being refractory to antiepileptic drugs. A study on EIEE caused by SMC1A gene truncating variation reported that the patients had severe developmental retardation, microcephaly, and refractory seizures, with poor response to treatment (Ye et al., 2022). Another article mentioned that EIEE is characterized by very early onset, frequent tonic spasms, and a suppression–burst pattern on EEG, with the course being severe and often leading to early death or marked psychomotor retardation (Radaelli et al., 2018).…”

Section: Introductionmentioning

confidence: 99%

Type 1 early infantile epileptic encephalopathy: A case report and literature review

Zaker,

Nouri,

Movahedinia

et al. 2024

Molec Gen & Gen Med

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BackgroundVariants in the Aristaless‐related homeobox (ARX) gene lead to a variety of phenotypes, with intellectual disability being a steady feature. Other features can include severe epilepsy, spasticity, movement disorders, hydranencephaly, and ambiguous genitalia in males. X‐linked Ohtahara syndrome or Type 1 early infantile epileptic encephalopathy (EIEE1) is a severe early‐onset epileptic encephalopathy with arrested psychomotor development caused by hemizygous mutations in the ARX gene, which encodes a transcription factor in fundamental brain developmental processes.MethodsWe presented a case report of a 2‐year‐old boy who exhibited symptoms such as microcephaly, seizures, and severe multifocal epileptic abnormalities, and genetic techniques such as autozygosity mapping, Sanger sequencing, and whole‐exome sequencing.ResultsWe confirmed that the patient had the NM_139058.3:c.84C>A; p.(Cys28Ter) mutation in the ARX gene.ConclusionThe patient with EIEE1 had physical symptoms and hypsarrhythmia on electroencephalogram. Genetic testing identified a causative mutation in the ARX gene, emphasizing the role of genetic testing in EIEE diagnosis.

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A de novo PUM1 Variant in a Girl With a Dravet-Like Syndrome: Case Report and Literature Review

Cited by 3 publications

References 17 publications

Video-electroencephalographic findings and clinical characteristics of bathing seizures in children

Video-electroencephalographic findings and clinical characteristics of bathing seizures in children

Heterozygous Mutation of Sodium Voltage-Gated Channel Alpha Subunit 2 and Pumilio Homolog 1 Genes in a Pediatric Patient: A Case Report

Type 1 early infantile epileptic encephalopathy: A case report and literature review

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