Epileptic Encephalopathy with Recurrent Focal Status Epilepticus and Epilepsia Partialis Continua in Patient with De Novo DNM1L Mutation: Electroclinical Features

AbstractMitochondrial dynamics such as fission and fusion play a vital role in normal brain development and neuronal activity. DNM1L encodes a dynamin-related protein 1 (Drp1), which is a GTPase essential for proper mitochondrial fission. The clinical phenotype of DNM1L mutations depends on the degree of mitochondrial fission deficiency, ranging from severe encephalopathy and death shortly after birth to initially normal development and then sudden onset of refractory status epilepticus with very poor neurologic outcome. We describe a case of a previously healthy 3-year-old boy with a mild delay in speech development until the acute onset of a refractory status epilepticus with subsequent epileptic encephalopathy and very poor neurologic outcome. The de novo missense mutation in DNM1L (c.1207C > T, p.R403C), which we identified in this case, seems to determine a unique clinical course, strikingly similar to four previously described patients in literature with the identical de novo heterozygous missense mutation in DNM1L.

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Continuous Visual Focal Status Epilepticus as the Primary Presentation of NMDA-R and GAD65-R Autoimmune Epilepsy

Frontiers in Neurology ◽

10.3389/fneur.2020.598974 ◽

2020 ◽

Vol 11 ◽

Author(s):

Elma M. Paredes-Aragón ◽

Héctor E. Valdéz-Ruvalcaba ◽

Andrea Santos-Peyret ◽

Marcela Cisneros-Otero ◽

Raúl Medina-Rioja ◽

...

Keyword(s):

Status Epilepticus ◽

Early Identification ◽

Acid Decarboxylase ◽

Visual Aura ◽

Epilepsia Partialis Continua ◽

Autoimmune Epilepsy ◽

Immune Mediated ◽

Focal Status Epilepticus ◽

Patients With Epilepsy ◽

Primary Presentation

Epilepsia partialis continua (EPC) has changed in its clinical and pathophysiological definition throughout time. Several etiologies have been described in addition to classic causes of EPC. The following case depicts a young woman who had a peculiar onset of epilepsy with a continuous visual aura becoming a form of chronic recurrent and non-progressive EPC. The patient was initially misdiagnosed as a non-neurological entity (assumed psychiatric in origin), but finally, an immune-mediated epilepsy was diagnosed, and EEG showed focal status epilepticus during evolution. Once the diagnosis was achieved and immune treatment was established, the patient is seizure free. Early identification of an immune basis in patients with epilepsy is important because immunotherapy can reverse the epileptogenic process and reduce the risk of chronic epilepsy. To date, this is the only case reported with EPC manifesting as a continuous visual aura associated with antiglutamic acid decarboxylase 65 (anti-GAD65) and anti-N-methyl-d-aspartate (anti-NMDA) antibodies.

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Efficacy of Surgical Treatment of De Novo, Adult-Onset, Cryptogenic, Refractory Focal Status Epilepticus

Archives of Neurology ◽

10.1001/archneur.63.6.895 ◽

2006 ◽

Vol 63 (6) ◽

pp. 895 ◽

Cited By ~ 29

Author(s):

Daniel J. Costello ◽

Mirela V. Simon ◽

Emad N. Eskandar ◽

Matthew P. Frosch ◽

Heidi L. Henninger ◽

...

Keyword(s):

Status Epilepticus ◽

Surgical Treatment ◽

De Novo ◽

Adult Onset ◽

Focal Status Epilepticus

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Differential Functional Changes of Nav1.2 Channel Causing SCN2A-Related Epilepsy and Status Epilepticus During Slow Sleep

Frontiers in Neurology ◽

10.3389/fneur.2021.653517 ◽

2021 ◽

Vol 12 ◽

Author(s):

Pu Miao ◽

Siyang Tang ◽

Jia Ye ◽

Jihong Tang ◽

Jianda Wang ◽

...

Keyword(s):

Status Epilepticus ◽

De Novo ◽

Autism Spectrum ◽

Epileptic Encephalopathy ◽

Related Disorder ◽

Functional Changes ◽

Whole Cell Patch Clamp ◽

Slow Sleep ◽

Infantile Seizures ◽

Functional Features

Background: Nav1.2 encoded by the SCN2A gene is a brain-expressed voltage-gated sodium channel known to be associated with neurodevelopment disorders ranging from benign familial neonatal infantile seizures (BFIS) to developmental and epileptic encephalopathy (DEE) and autism spectrum disorder. Interestingly, status epilepticus during slow sleep (ESES), which aggravates cognitive impairment, has been found in SCN2A-related epilepsy. However, the functional features and the relationship between SCN2A and ESES have not been researched.Method: We herein investigated the functional consequences of an unpublished de novo V911A and the other two published variants in patients with SCN2A-related disorder and ESES by whole-cell patch-clamp studies in transfected HEK293T cells.Results: The unpublished V911A and published K1933M variants detected in patients with DEE exhibited a profound gain-of-functional (GOF) change. Another published BFIS variant S863F significantly reduced current density as a loss-of-functional (LOF) change. The refractory epilepsy in the patient with V911A was controlled by using the precise treatment of oxcarbazepine (OXC) since the age of 3 months. ESES was found at 18 months during the seizure-free period. We finally chose an aggressive treatment for eliminating ESES by using methylprednisolone combined with levetiracetam and nitrazepam instead of the precise treatment of OXC.Conclusion: Both GOF and LOF variants in the SCN2A gene can lead to ESES among the phenotypes of DEE and BFIS. We should monitor the electroencephalogram regularly in the patients with SCN2A-related epilepsy even during their seizure-free period.

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