Cargando…

Intellectual disability in patients with epilepsy with eyelid myoclonias

We describe here the clinical outcome of four women with epilepsy with eyelid myoclonia (aged 21–53 years). All patients had an uneventful early history, normal physical growth and appearance and no comorbid sensory or motor disability and normal brain magnetic resonance imaging finding. Two women w...

Descripción completa

Detalles Bibliográficos
Autores principales:	Arvio, Maria, Sauna-aho, Oili, Nyrke, Timo, Bjelogrlic-Laakso, Nina
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2018
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5966842/ https://www.ncbi.nlm.nih.gov/pubmed/29844915 http://dx.doi.org/10.1177/2050313X18777951

Ejemplares similares

Signs indicating dementia in Down, Williams and Fragile X syndromes
por: Sauna‐Aho, Oili, et al.
Publicado: (2018)

Cognition in adults with Williams syndrome—A 20‐year follow‐up study
por: Sauna‐aho, Oili, et al.
Publicado: (2019)

Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures
por: Takahashi, Satoru, et al.
Publicado: (2015)

Candidate Genes for Eyelid Myoclonia with Absences, Review of the Literature
por: Mayo, Sonia, et al.
Publicado: (2021)

Neurocognitive follow‐up in adult siblings with Phelan–McDermid syndrome due to a novel SHANK3 splicing site mutation
por: Kankuri‐Tammilehto, Minna, et al.
Publicado: (2021)

Ictal epileptic headache revealing non convulsive status epilepticus in a case of eyelid myoclonia with absences
por: Fanella, Martina, et al.
Publicado: (2015)

Myoclonia in Papio papio: Are they all “Epileptic” ?
por: Naquet, Robert, et al.
Publicado: (2000)

Report of a novel missense mutation in the MECP2 gene in a middle‐aged man with intellectual disability syndrome
por: Arvio, Maria, et al.
Publicado: (2021)

Mortality in individuals with intellectual disabilities in Finland
por: Arvio, Maria, et al.
Publicado: (2016)

Manifestations of Intellectual Disability, Dystonia, and Parkinson's Disease in an Adult Patient with ARX Gene Mutation c.558_560dup p.(Pro187dup)
por: Arvio, Maria, et al.
Publicado: (2023)

Developmental progression of intellectual disability, autism, and epilepsy in a child with an IQSEC2 gene mutation
por: Zipper, Rachelle, et al.
Publicado: (2017)

Perampanel and Challenging Behaviour in Intellectual Disability and Epilepsy: A Management Dilemma
por: Dolton, Emily, et al.
Publicado: (2014)

Behavioral disorder in people with an intellectual disability and epilepsy: A report of the Intellectual Disability Task Force of the Neuropsychiatric Commission of ILAE
por: Kerr, Mike, et al.
Publicado: (2016)

Dental treatment under general anesthesia in an intellectually disabled child with intellectually disabled parents
por: Han, Jeong-Hwa, et al.
Publicado: (2016)

Two novel PCDH19 mutations in Russian patients with epilepsy with intellectual disability limited to females: a case report
por: Kozina, Anastasiya Aleksandrovna, et al.
Publicado: (2020)

Expanding the Phenotype of Homozygous KCNMA1 Mutations; Dyskinesia, Epilepsy, Intellectual Disability, Cerebellar and Corticospinal Tract Atrophy
por: Yeşil, Gözde, et al.
Publicado: (2018)

Nonsyndromic intellectual disability with novel heterozygous SCN2A mutation and epilepsy
por: Yokoi, Takayuki, et al.
Publicado: (2018)

Under representation of people with epilepsy and intellectual disability in research
por: Shankar, Rohit, et al.
Publicado: (2018)

Mutations in HECW2 are associated with intellectual disability and epilepsy
por: Halvardson, Jonatan, et al.
Publicado: (2016)

Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
por: Fatima, Ambrin, et al.
Publicado: (2021)

Catatonia in Older Adult Individuals with Intellectual Disabilities
por: White, Megan, et al.
Publicado: (2015)

Obsessive-Compulsive Symptoms in an Adolescent with Intellectual Disability
por: Al-Abdullah, Zainab, et al.
Publicado: (2022)

A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report
por: Qiu, Tong, et al.
Publicado: (2021)

A Patient with Moderate Intellectual Disability and 49, XXXYY Karyotype
por: Verhoeven, Willem M A, et al.
Publicado: (2022)

Intelligence quotient is associated with epilepsy in children with intellectual disability in India
por: Lakhan, Ram
Publicado: (2013)

Copy number variations in Saudi family with intellectual disability and epilepsy
por: Naseer, Muhammad I., et al.
Publicado: (2016)

tRNA methyltransferase homologue gene TRMT10A mutation in young adult‐onset diabetes with intellectual disability, microcephaly and epilepsy
por: Yew, T. W., et al.
Publicado: (2016)

Adenocarcinoma of the Right Breast in a Man with Intellectual Disability
por: Satgé, Daniel, et al.
Publicado: (2013)

Two Novel Variants of WDR26 in Chinese Patients with Intellectual Disability
por: Hu, Jiacheng, et al.
Publicado: (2022)

A Novel POGZ Variant in a Patient with Intellectual Disability and Obesity
por: Giraldo-Ocampo, Sebastian, et al.
Publicado: (2022)

Rare Copy Number Variations and Predictors in Children With Intellectual Disability and Epilepsy
por: Kessi, Miriam, et al.
Publicado: (2018)

De novo substitutions of TRPM3 cause intellectual disability and epilepsy
por: Dyment, David A., et al.
Publicado: (2019)

Neuro2D Lies at the Nexus of Autism, Epilepsy, and Intellectual Disabilities
por: Bordey, Angelique
Publicado: (2022)

Bone health, intellectual disability and epilepsy: An observational community‐based study
por: Winterhalder, Robert, et al.
Publicado: (2022)

Mutual associations between intellectual disability and epilepsy-related psychiatry disability: Population-based study
por: Wang, Zhenjie, et al.
Publicado: (2017)

Eyelid Angiokeratoma
por: Hussein, Ramadan S., et al.
Publicado: (2014)

Airway management during general anesthesia in an intellectually disabled patient with undiagnosed tracheomalacia
por: Shin, Sooil, et al.
Publicado: (2018)

Cognitive and behavioural therapy of voices for with patients intellectual disability: Two case reports
por: Favrod, Jérôme, et al.
Publicado: (2007)

Evaluation of Serum Prolactin Levels in Intellectually Disabled Patients Using Antipsychotic Medications
por: Lambert, Tammy L, et al.
Publicado: (2012)

Recurrent proliferative vitreoretinopathy in a patient with morning glory syndrome and intellectual disability
por: Sato, Tomoko, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_kljh51d8e7fhbs4ui230l5rv11