scholarly journals Mapping of a Locus for a Familial Autosomal Recessive Idiopathic Myoclonic Epilepsy of Infancy to Chromosome 16p13

2000 ◽  
Vol 66 (5) ◽  
pp. 1552-1557 ◽  
Author(s):  
Federico Zara ◽  
Elena Gennaro ◽  
Mariano Stabile ◽  
Ilaria Carbone ◽  
Michela Malacarne ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Myoclonic Epilepsy ◽  
Chromosome 16P13 ◽  
Myoclonic Epilepsy Of Infancy

De novoSCN1Amutations are a major cause of severe myoclonic epilepsy of infancy

2003 ◽  
Vol 21 (6) ◽  
pp. 615-621 ◽  
Author(s):  
Lieve Claes ◽  
Berten Ceulemans ◽  
Dominique Audenaert ◽  
Katrien Smets ◽  
Ann Löfgren ◽  
...  
Keyword(s):  
Myoclonic Epilepsy ◽  
Severe Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

The Detection of Carriers in Hereditary Myoclonic Epilepsy

1960 ◽  
Vol 9 (4) ◽  
pp. 466-471 ◽  
Author(s):  
M. Bruce Sarlin ◽  
H. Warner Kloepfer ◽  
Walter A. Mickle ◽  
Robert G. Heath
Keyword(s):  
Autosomal Recessive ◽  
Similar Type ◽  
Myoclonic Epilepsy ◽  
Autosomal Recessive Mode ◽  
Negro Family ◽  
Heterozygous Carriers ◽  
Mode Of Inheritance

SummaryThree cases of hereditary myoclonic epilepsy have been observed among ten siblings in a Negro family. Electroencephalograms of the parents, three normal siblings and two of the three affected siblings have been recorded and all show abnormalities of a similar type. These are of a generalized nature revealing no focal damage. This type of abnormality has been observed in an affected male and two normal siblings by Watson and Denny-Brown.The autosomal recessive mode of inheritance observed in the present study is consistent with the transmission most frequently reported in myoclonic epilepsy. We believe that abnormal electroencephalographic patterns are associated with this gene and that these patterns may be useful in the detection of heterozygous carriers.

Severe Myoclonic Epilepsy of Infancy: Extended Spectrum of GEFS+?

Epilepsia ◽  
2001 ◽  
Vol 42 (7) ◽  
pp. 837-844 ◽  
Author(s):  
R. Singh ◽  
E. Andermann ◽  
W. P. A. Whitehouse ◽  
A. S. Harvey ◽  
D. L. Keene ◽  
...  
Keyword(s):  
Myoclonic Epilepsy ◽  
Extended Spectrum ◽  
Severe Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

Nocturnal variant of benign myoclonic epilepsy of infancy: a case series

2014 ◽  
Vol 16 (1) ◽  
pp. 45-49
Author(s):  
Aparna M. Prabhu ◽  
Sheel Pathak ◽  
Divya Khurana ◽  
Agustin Legido ◽  
Karen Carvalho ◽  
...  
Keyword(s):  
Case Series ◽  
Myoclonic Epilepsy ◽  
Myoclonic Epilepsy Of Infancy

scholarly journals Progressive Myoclonic Epilepsy: Review Article with A Case Report of Lafora Disease

2018 ◽  
Vol 42 (3) ◽  
pp. 138-147
Author(s):  
Selina Husna Banu ◽  
Mashaya Zaman Koli
Keyword(s):  
Autosomal Recessive ◽  
Early Stage ◽  
Clinical History ◽  
Genetic Mutation ◽  
Myoclonic Epilepsy ◽  
Epilepsy Syndrome ◽  
Lafora Disease ◽  
Clinical Criteria ◽  
Lafora Body ◽  
Progressive Myoclonic Epilepsy

Progressive myoclonic epilepsy (PME) is an autosomal recessive, apparently a rare complex epilepsy syndrome. Among different types of PME, lafora body disease is more quickly progressive usually fatal within 2nd and 3rd decade. They are characterized by childhood or adolescent onset difficult to control multiple type seizures including myoclonous, generalized tonic clonic, absences, psychomotor regression with ataxia, dementia, dysarthria, visual hallucinations, and other general features. Early suspicion is important that leads to the rational diagnostic workout. The electro-clinical criteria would help a lot to exclude the benign epilepsy syndrome such as juvenile myoclonic epilepsy (JME) and suspect PME at the early stage of the complex epilepsy syndrome. Diagnosis is further clarified and confirmed by finding lafora body in skin and genetic study. Genetic mutation found in more than 87% cases in EPM2A gene or the EPM2B also known as NHLRC1 gene and are inherited in an autosomal recessive manner. EMP2A gene is located on chromosome 6q24. They are reported from Mediterranean basin, central Asia, India, Pakistan, northern Africa and Middle East where consanguineous marriage is common. We report a diagnosed case for the first time in Bangladesh. With the detail clinical history, rational use of the available investigation tools and clinical suspicion, diagnosis of the disorder at its early stage is possible. The rapid progress in genetic therapy would be a great hope in near future. Bangladesh J Child Health 2018; VOL 42 (3) :138-147

Vagus Nerve Stimulation in Intractable Epilepsy Associated With SCN1A Gene Abnormalities

2017 ◽  
Vol 32 (5) ◽  
pp. 494-498 ◽  
Author(s):  
Stephen P. Fulton ◽  
Kate Van Poppel ◽  
Amy L. McGregor ◽  
Basanagoud Mudigoudar ◽  
James W. Wheless
Keyword(s):  
Vagus Nerve ◽  
Nerve Stimulation ◽  
Vagus Nerve Stimulation ◽  
Seizure Control ◽  
Intractable Epilepsy ◽  
Myoclonic Epilepsy ◽  
Dravet Syndrome ◽  
Severe Myoclonic Epilepsy ◽  
Scn1a Gene ◽  
Myoclonic Epilepsy Of Infancy

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 childhood, causing cognitive decline as well as intractable seizures. Severe Myoclonic Epilepsy of Infancy–Borderline (SMEIB) is a term used to include cases with similar severities as those with Dravet syndrome, but lacking a single feature of classic severe myoclonic epilepsy of infancy. Vagus nerve stimulation is a nonpharmacologic treatment for intractable epilepsy. A retrospective review was conducted of patients with deleterious SCN1A mutations who had vagus nerve stimulation placement for treatment of their intractable epilepsy. These children had onset of their epilepsy between 3 and 29 months of age. Seizure control was assessed 6 months after implantation. Twenty patients are included in the study, with 12 implanted at our institution. Nine of the 12 patients implanted at our institution, who had confirmed pre- and post-implantation seizure assessments, showed improvement in seizure control, which was defined as >50% reduction in generalized tonic-clonic seizures, and 4 of those 12 reported improvement in cognitive or speech development. Seven of the 8 patients not implanted at our institution reported subjective benefit, with 4 relating “marked improvement” or seizure freedom. Vagus nerve stimulation appears to impart a benefit to children with deleterious SCN1A gene abnormalities associated with intractable epilepsy.

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