Whole-exome sequencing identifies a novel de novo variant in DYNC1H in a patient with intractable epilepsy
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DOI: 10.1007/s10072-021-05824-9
Abstract: DYNC1H1 variants are associated with broad phenotypes including Charcot-Marie-Tooth disease, spinal muscular atrophy, and mental retardation. However, DYNC1H1 variants related intractable epilepsy have not yet been described in detail so far. Herein, we describe the… read more here.
Keywords: intractable epilepsy; novel novo; whole exome; novo variant ... See more keywords
Postoperative improvement of executive function and adaptive behavior in children with intractable epilepsy
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DOI: 10.1016/j.braindev.2020.08.005
Abstract: INTRODUCTION An alteration in postoperative cognitive function varies according to the patients' background characteristics, such as etiology, focus, and seizure duration. Accurate prediction and assessment of postoperative cognitive function is difficult in each patient. Adaptive… read more here.
Keywords: adaptive behavior; function adaptive; intractable epilepsy; executive function ... See more keywords
Two cases of DYNC1H1 mutations with intractable epilepsy
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DOI: 10.1016/j.braindev.2021.05.005
Abstract: BACKGROUND The DYNC1H1 gene encodes the heavy chain of cytoplasmic dynein 1, a core structure of the cytoplasmic dynein complex. Dominant DYNC1H1 mutations are implicated in Charcot-Marie-Tooth disease, axonal, type 20, spinal muscular atrophy, lower… read more here.
Keywords: myoclonic seizures; intractable epilepsy; aaa6 domain; dync1h1 mutations ... See more keywords
Vagus Nerve Stimulation in Intractable Epilepsy Associated With SCN1A Gene Abnormalities
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DOI: 10.1177/0883073816687221
Abstract: Mutations in the SCN1A gene cause a spectrum of epilepsy syndromes. There are 2 syndromes that are on the severe end of this spectrum. The classic severe form, Dravet syndrome, is an epileptic encephalopathy of… read more here.
Keywords: epilepsy; nerve stimulation; intractable epilepsy; vagus nerve ... See more keywords
Corpus Callosotomy for Intractable Epilepsy Revisited: The Children’s Hospital of Michigan Series
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DOI: 10.1177/0883073817697847
Abstract: Corpus callosotomy is a palliative procedure performed to reduce the severity of drug-resistant epilepsy. The authors assessed its efficacy on different seizure types in 20 subjects (age range 5-19 years); 8 with active vagus nerve… read more here.
Keywords: callosotomy intractable; corpus callosotomy; callosotomy; intractable epilepsy ... See more keywords
Intractable Epilepsy in a 12 Year Old Male with idic(15) Syndrome
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DOI: 10.1542/peds.141.1_meetingabstract.699
Abstract: PURPOSE: Lennox-Gastaut Syndrome (LGS) is a complex syndrome that has been linked to chromosome 15 q11.2-13.1 duplication (Idic (15) Syndrome) and possibly related to 15 q13.3 microduplication syndrome, however patients with both syndromes may have… read more here.
Keywords: idic syndrome; intractable epilepsy; year old; syndrome ... See more keywords
Expression of pannexin 1 and 2 in cortical lesions from intractable epilepsy patients with focal cortical dysplasia
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DOI: 10.18632/oncotarget.14317
Abstract: Focal cortical dysplasia (FCD) is a major cause of intractable epilepsy in children however the mechanisms underlying the pathogenesis of FCD and FCD induced epilepsy remain unclear. Increasing evidence suggests that the large-pore ion channels,… read more here.
Keywords: fcd; epilepsy; focal cortical; intractable epilepsy ... See more keywords
Diagnosis and Surgical Treatment of Epilepsy
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DOI: 10.3390/brainsci8070115
Abstract: Epilepsy is a common neurological disease that can affect all ages. Although the majority of people with epilepsy will have excellent seizure control with medication, about 30% will fail anti-epileptic drugs. For those with medically… read more here.
Keywords: epilepsy; surgical treatment; intractable epilepsy; treatment ... See more keywords
Effect of Low-Dose Naltrexone on Egyptian Children with Intractable Epilepsy: A Case Series Study
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DOI: 10.4103/0028-3886.333523
Abstract: Epilepsy is a chronic neurological disorder affecting 50 million patients worldwide, in need of continuous treatment, while 30% of them are refractory to treatment. Despite multiple antiepileptic drugs are available for the treatment of epilepsy,… read more here.
Keywords: children intractable; intractable epilepsy; epilepsy; low dose ... See more keywords
Current Pharmacologic Strategies for Treatment of Intractable Epilepsy in Children
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DOI: 10.5213/inj.2142166.083
Abstract: Epileptic encephalopathy (EE) is a devastating pediatric disease that features medically resistant seizures, which can contribute to global developmental delays. Despite technological advancements in genetics, the neurobiological mechanisms of EEs are not fully understood, leaving… read more here.
Keywords: intractable epilepsy; treatment intractable; current pharmacologic; strategies treatment ... See more keywords