Cargando…

Intractable Generalized Epilepsy and Autosomal Dominant Hypocalcemia: A Case Report

Calcium-sensing receptor gain-of-function mutations are known to cause autosomal dominant hypocalcemia and independently an epilepsy syndrome. We report the unique case of a child with both intractable generalized epilepsy and a chronic abnormality in calcium homeostasis due to a calcium-sensing rec...

Descripción completa

Detalles Bibliográficos
Autores principales:	Rossi, Gian C., Patterson, Amy L., McGregor, Amy L., Wheless, James W.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	SAGE Publications 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6852356/ https://www.ncbi.nlm.nih.gov/pubmed/31763346 http://dx.doi.org/10.1177/2329048X19876199

Ejemplares similares

Autosomal Dominant Hypocalcemia Type 1 and Neonatal Focal Seizures
por: Teleanu, Raluca Ioana, et al.
Publicado: (2023)

Autosomal Dominant Hypocalcemia (Hypoparathyroidism) Types 1 and 2
por: Roszko, Kelly L., et al.
Publicado: (2016)

Autosomal Dominant Hypocalcemia Type 1: A Systematic Review
por: Roszko, Kelly L, et al.
Publicado: (2022)

Autosomal Dominant Hypocalcemia Type 1 (ADH1) Associated With Myoclonus and Intracerebral Calcifications
por: Elston, Marianne S, et al.
Publicado: (2022)

SAT218 Refractory Hypocalcemia From Combined Autosomal Dominant Hypocalcemia Type 2 And Postsurgical Hypoparathyroidism
por: Sonmez Ince, Melda, et al.
Publicado: (2023)

PTH infusion ameliorates seizures in autosomal dominant hypocalcemia type 1
por: Sastre, Ana, et al.
Publicado: (2021)

Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
por: Kim, Mi Yeon, et al.
Publicado: (2010)

Autosomal dominant hypocalcemia with a novel CASR mutation: a case study and literature review
por: Wu, Yingying, et al.
Publicado: (2022)

Differential parathyroid and kidney Ca(2+)-sensing receptor activation in autosomal dominant hypocalcemia 1
por: van Megen, Wouter H., et al.
Publicado: (2022)

Autosomal dominant hypocalcemia with Bartter syndrome due to a novel activating mutation of calcium sensing receptor, Y829C
por: Choi, Keun Hee, et al.
Publicado: (2015)

Radiosurgery for the treatment of dominant hemisphere periventricular heterotopia and intractable epilepsy in a series of three patients()
por: Wu, Chengyuan, et al.
Publicado: (2012)

SAT-347 Diagnosis of Autosomal Dominant Hypocalcemia Type 1 Following the Initiation of Imatinib for Treatment of Chronic Myeloid Leukemia
por: Jones-Ryan, Madeline L, et al.
Publicado: (2020)

Neurosurgery for intractable epilepsy in pregnancy: A case report
por: Behan, Claire, et al.
Publicado: (2023)

Calcilytic NPSP795 Increases Plasma Calcium and PTH in an Autosomal Dominant Hypocalcemia Type 1 Mouse Model
por: Hannan, Fadil M, et al.
Publicado: (2020)

Stereotactic laser ablation of the splenium for intractable epilepsy()
por: Ho, Allen L., et al.
Publicado: (2016)

Intractable Epilepsy with Solitary Cerebral Calcification
por: Hwang, Kyoung Jin, et al.
Publicado: (2017)

Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature
por: Mameli, Chiara, et al.
Publicado: (2021)

Identification and Functional Characterization of a Novel Mutation in the Human Calcium-Sensing Receptor That Co-Segregates With Autosomal-Dominant Hypocalcemia
por: Rasmussen, Anne Qvist, et al.
Publicado: (2018)

Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population
por: Dershem, Ridge, et al.
Publicado: (2020)

Activating Mutations of the G-protein Subunit α (11) Interdomain Interface Cause Autosomal Dominant Hypocalcemia Type 2
por: Gorvin, Caroline M, et al.
Publicado: (2019)

Autosomal Dominant Hypocalcemia With Atypical Urine Findings Accompanied by Novel CaSR Gene Mutation and VitD Deficiency
por: Tsuji, Tomoya, et al.
Publicado: (2020)

Primary Hypoparathyroidism Misdiagnosed as Epilepsy – A Case Report: Seizures, hypocalcemia and cerebral calcification.
por: Moushumi, Lodh, et al.
Publicado: (2014)

Noninvasive treatment alternative for intractable startle epilepsy
por: Klinkenberg, Sylvia, et al.
Publicado: (2014)

Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME): Probable first family from India
por: Sharma, Chandra Mohan, et al.
Publicado: (2014)

Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1
por: Lu, Jinyu, et al.
Publicado: (2022)

The Calcilytic Agent NPS 2143 Rectifies Hypocalcemia in a Mouse Model With an Activating Calcium-Sensing Receptor (CaSR) Mutation: Relevance to Autosomal Dominant Hypocalcemia Type 1 (ADH1)
por: Hannan, Fadil M., et al.
Publicado: (2015)

Dominant‐negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome
por: Pujol‐Giménez, Jonai, et al.
Publicado: (2023)

Jervell and Lange-Nielson Syndrome masquerading as intractable epilepsy
por: Goyal, Jagdish P., et al.
Publicado: (2012)

Insulinoma Presenting as Medically Intractable Temporal Lobe Epilepsy
por: Park, So-Hee, et al.
Publicado: (2014)

Stimulating Solutions for Intractable Epilepsy
por: Denison, Timothy, et al.
Publicado: (2021)

Clinical Utility of Transcranial Magnetic Stimulation (TMS) in the Presurgical Evaluation of Motor, Speech, and Language Functions in Young Children With Refractory Epilepsy or Brain Tumor: Preliminary Evidence
por: Narayana, Shalini, et al.
Publicado: (2021)

Chronic Granulomatous Herpes Encephalitis in a Child with Clinically Intractable Epilepsy
por: Hackney, James R., et al.
Publicado: (2012)

Educational Case: Autosomal Dominant Polycystic Kidney Disease
por: Frazier, Ryan L., et al.
Publicado: (2020)

Arrested maturation of excitatory synapses in autosomal dominant lateral temporal lobe epilepsy
por: Zhou, Yu-Dong, et al.
Publicado: (2009)

The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy
por: Becchetti, Andrea, et al.
Publicado: (2015)

Mirror Focus in a Patient with Intractable Occipital Lobe Epilepsy
por: Kim, Jiyoung, et al.
Publicado: (2014)

Systemic autoinflammation with intractable epilepsy managed with interleukin-1 blockade
por: DeSena, Allen D., et al.
Publicado: (2018)

Epilepsy Surgery in Pediatric Intractable Epilepsy with Destructive Encephalopathy
por: Park, So Young, et al.
Publicado: (2013)

MON-464 A Rare Case of Hypocalcemia-Induced Intractable Vomiting Requiring PEG Tube Placement
por: Mallari, Margaret A, et al.
Publicado: (2020)

Use of the mTOR inhibitor everolimus in a patient with multiple manifestations of tuberous sclerosis complex including epilepsy
por: Wheless, James W.
Publicado: (2015)

Cannot write session to /tmp/vufind_sessions/sess_p26jsa49pipjeggs8fj3fjk7ht