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JOURNAL ARTICLE
Yu Kobayashi, Jun Tohyama, Yukitoshi Takahashi, Tomohide Goto, Kazuhiro Haginoya, Takeshi Inoue, Masaya Kubota, Hiroshi Fujita, Ryoko Honda, Masahiro Ito, Kanako Kishimoto, Kazuyuki Nakamura, Yasunari Sakai, Jun-Ichi Takanashi, Manabu Tanaka, Koichi Tanda, Koji Tominaga, Seiichiro Yoshioka, Mitsuhiro Kato, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto
OBJECTIVE: Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. METHODS: We recruited patients with pathogenic or likely pathogenic CDKL5 variants from a cohort of approximately 1,100 Japanese patients with developmental and epileptic encephalopathies, who underwent genetic analysis...
April 2021: Brain & Development
#22
JOURNAL ARTICLE
Angelo Russo, Giuseppe Gobbi, Antonella Pini, Rikke Steensbjerre Møller, Guido Rubboli
Although the classic phenotype of episodic ataxia type 1 (EA1) caused by variants in KCNA1 includes episodic ataxia and myokymia, further genotype-phenotype correlations are difficult to establish due to highly heterogeneous clinical presentations associated with KCNA1 pathogenic variants. De novo variants in the paralogous Pro-Val-Pro motif (PVP) of KCNA2, an essential region for channel gating, have been reported to be associated with severe epilepsy phenotypes, including developmental and epileptic encephalopathies (DEE)...
December 1, 2020: Epileptic Disorders: International Epilepsy Journal with Videotape
#23
REVIEW
Lucia Fusco, Domenico Serino, Marta Elena Santarone
Epileptic Spasms (ES) is a type of seizure usually occurring in the context of a severe childhood epileptic syndrome associated to significant Electroencephalogram (EEG) abnormalities. There are three scenarios in which ES may occur. The first one is represented by West Syndrome (WS): ES occur in a previously non encephalopathic infant in association with the development of a hypsarrhythmic EEG pattern. In most cases, standard treatment with Adrenocorticotropic Hormone (ACTH), steroids or vigabatrin leads to a reversal of the electroclinical picture...
December 2020: Epilepsy & Behavior: E&B
#24
JOURNAL ARTICLE
David G Vossler, Jacquelyn L Bainbridge, Jane G Boggs, Edward J Novotny, Tobias Loddenkemper, Edward Faught, Marta Amengual-Gual, Sarah N Fischer, David S Gloss, Donald M Olson, Alan R Towne, Dean Naritoku, Timothy E Welty
PURPOSE: Established tonic-clonic status epilepticus (SE) does not stop in one-third of patients when treated with an intravenous (IV) benzodiazepine bolus followed by a loading dose of a second antiseizure medication (ASM). These patients have refractory status epilepticus (RSE) and a high risk of morbidity and death. For patients with convulsive refractory status epilepticus (CRSE), we sought to determine the strength of evidence for 8 parenteral ASMs used as third-line treatment in stopping clinical CRSE...
September 2020: Epilepsy Currents
#25
Yuji Masataka, Ichiro Takumi, Edward Maa, Hitoshi Yamamoto
We observed that cannabidiol supplements were highly effective in treating an infant boy with drug-resistant early infantile epileptic encephalopathy, eliminating his intractable tonic seizures. The infant began suffering clusters of brief tonic seizures from birth at 39 weeks gestation. EEG showed burst-suppression and seizures could not be controlled by trials of phenobarbital, zonisamide, vitamin B6, clobazam, levetiracetam, topiramate, phenytoin, valproate, high-dose phenobarbital, and ACTH therapy. The boy was discharged from hospital at 130 days of age still averaging tonic seizures 20-30 times per day...
2020: Epilepsy & behavior reports
#26
JOURNAL ARTICLE
Bobby G Ng, Erik A Eklund, Sergey A Shiryaev, Yin Y Dong, Mary-Alice Abbott, Carla Asteggiano, Michael J Bamshad, Eileen Barr, Jonathan A Bernstein, Shabeed Chelakkadan, John Christodoulou, Wendy K Chung, Michael A Ciliberto, Janice Cousin, Fiona Gardiner, Suman Ghosh, William D Graf, Stephanie Grunewald, Katherine Hammond, Natalie S Hauser, George E Hoganson, Kimberly M Houck, Jennefer N Kohler, Eva Morava, Austin A Larson, Pengfei Liu, Sujana Madathil, Colleen McCormack, Naomi J L Meeks, Rebecca Miller, Kristin G Monaghan, Deborah A Nickerson, Timothy Blake Palculict, Gabriela Magali Papazoglu, Beth A Pletcher, Ingrid E Scheffer, Andrea Beatriz Schenone, Rhonda E Schnur, Yue Si, Leah J Rowe, Alvaro H Serrano Russi, Rossana Sanchez Russo, Farouq Thabet, Allysa Tuite, María Mercedes Villanueva, Raymond Y Wang, Richard I Webster, Dorcas Wilson, Alice Zalan, Lynne A Wolfe, Jill A Rosenfeld, Lindsay Rhodes, Hudson H Freeze
Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-acetylglucosaminyltransferase required for the synthesis of lipid linked oligosaccharide precursor and proper N-linked glycosylation. De novo variants in ALG13 underlie a form of early infantile epileptic encephalopathy known as EIEE36, but given its essential role in glycosylation, it is also considered a congenital disorder of glycosylation (CDG), ALG13-CDG. Twenty-four previously reported ALG13-CDG cases had de novo variants, but surprisingly, unlike most forms of CDG, ALG13-CDG did not show the anticipated glycosylation defects, typically detected by altered transferrin glycosylation...
November 2020: Journal of Inherited Metabolic Disease
#27
JOURNAL ARTICLE
Hiroki Tsuchiya, Fumika Endoh, Tomoyuki Akiyama, Masao Matsuhashi, Katsuhiro Kobayashi
INTRODUCTION: Epilepsy associated with tuberous sclerosis complex (TSC) has very complex clinical characteristics. Scalp electroencephalogram (EEG) fast (40-200 Hz) oscillations (FOs) were recently suggested to indicate epilepsy severity. Epileptic FOs may undergo age-dependent longitudinal change in individual patients, however, and the typical pattern of such change is not yet fully clarified. We therefore investigated the age-related correspondence between clinical courses and FOs in pediatric patients with TSC-associated epilepsy...
July 4, 2020: Brain & Development
#28
JOURNAL ARTICLE
Chen Chen, Yunpeng Hao, Jianmin Liang, Xuncan Liu
RATIONALE: Asparagine synthetase deficiency (ASNSD) refers to a congenital metabolic abnormality caused by mutation in the asparagine synthetase (ASNS) gene encoded by chromosome 7q21. Herein, we report the first case of ASNSD in China, in which novel ASNS mutations were identified. PATIENT CONCERNS: A 6-month-old boy presented with a 4-month history of microcephaly and psychomotor developmental retardation and a 2-month history of epilepsy. Four months after birth, magnetic resonance imaging demonstrated a giant cyst in the right lateral ventricle, and a ventriculoperitoneal shunt was placed...
May 29, 2020: Medicine (Baltimore)
#29
REVIEW
Ricka Messer, Kelly G Knupp
Infantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with structural, genetic, or metabolic etiologies. Prompt treatment of this severe epileptic encephalopathy improves long-term outcomes but remains elusive in many situations. Despite common misconceptions, even patients with identified etiologies or preexisting developmental delay benefit from proven standard therapies, including adrenocorticotropic hormone (ACTH), oral corticosteroids, or vigabatrin...
April 2020: Seminars in Neurology
#30
JOURNAL ARTICLE
Meagan S Siehr, Cory A Massey, Jeffrey L Noebels
X-linked infantile spasms syndrome (ISSX) is a clinically devastating developmental epileptic encephalopathy with life-long impact. Arx(GCG)10+7 , a mouse model of the most common triplet-repeat expansion mutation of ARX , exhibits neonatal spasms, electrographic phenotypes and abnormal migration of GABAergic interneuron subtypes. Neonatal presymptomatic treatment with 17β-estradiol (E2) in Arx(GCG)10+7 reduces spasms and modifies progression of epilepsy. Cortical pathology during this period, a crucial point for clinical intervention in ISSX, has largely been unexplored, and the pathogenic cellular defects that are targeted by early interventions are unknown...
March 30, 2020: Disease Models & Mechanisms
#31
JOURNAL ARTICLE
Kanako Takeda, Yusaku Miyamoto, Hisako Yamamoto, Atsushi Ishii, Shinichi Hirose, Hitoshi Yamamoto
BACKGROUND: CDKL5 deficiency is caused by mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene and clinically manifests often in females as drug-resistant intractable epilepsy and severe psychomotor retardation. CASE REPORT: We report the case of a girl with a CDKL5 mutation born at 39 weeks without neonatal asphyxia. She developed epilepsy at age 1 month with myoclonus of the face and limbs, and non-rhythmic and irregular opsoclonus. She developed tonic seizures and epileptic spasms at 6 months of age and was diagnosed with symptomatic West syndrome and underwent adrenocorticotropic hormone therapy but her seizures were refractory...
January 2020: Brain & Development
#32
JOURNAL ARTICLE
Orkide Guzel, Utku Uysal, Nur Arslan
PURPOSE: Ketogenic diet (KD) is an effective non-pharmacological treatment for drug-resistant epilepsy. The aim of this study was to investigate the efficacy, tolerability and complications of olive oil-based KD in epileptic children. METHOD: In this single-center, prospective study, patients were followed up at 1, 3, 6 and 12 months after KD initiation. Initially, blood ketone levels were measured daily, and as needed thereafter to maintain the levels between 4 and 5 mmol/L...
January 2019: European Journal of Paediatric Neurology: EJPN
#33
JOURNAL ARTICLE
Jorge Malagon Valdez
West syndrome or infantile spasms is an epileptic encephalopathy, classified as generalized epilepsies and syndromes. There are multiple reports of the evolution from West to Lennox-Gastaut syndrome of 25 up to 60%, without a specific cause is determined. It has been reported that they may be only an epileptic entity age dependent that it would be in relation to the degree of brain immaturity. In this retrospective review of 130 cases of West syndrome, only 14 (10.7%) evolved to Lennox-Gastaut. Having received in all cases vigabatrin as a treatment, makes us suppose that the low incidence could be related to the use of this drug...
2018: Medicina
#34
REVIEW
Dumitru A Iacobas, Libor Velíšek
Inflammation is an established etiopathogenesis factor of infantile spasms (IS), a therapy-resistant epileptic syndrome of infancy. We investigated the IS-associated transcriptomic alterations of neurotransmission in rat hypothalamic arcuate nucleus, how they are corrected by antiinflamatory treatments and whether there are sex differences. IS was triggered by repeated intraperitoneal administration of N-methyl-D-aspartic acid following anti-inflammatory treatment (adreno-cortico-tropic-hormone (ACTH) or PMX53) or normal saline vehicle to prenatally exposed to betamethasone young rats...
October 2018: Neural Regeneration Research
#35
JOURNAL ARTICLE
Kousuke Yonemoto, Yuko Ichimiya, Masafumi Sanefuji, Noriyuki Kaku, Ayumi Sakata, Rieko Baba, Fumiya Yamashita, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Yoshihiko Maehara, Yasunari Sakai, Shouichi Ohga
PURPOSE: Acute encephalopathy with biphasic seizures and reduced diffusion (AESD) is a leading cause of childhood-onset encephalopathy in Japan. Children with AESD frequently develop intractable epilepsy, whereas their treatment options remain to be determined. METHOD: We present 2 unrelated girls, who developed AESD at 25 months (case 1) and 12 months of age (case 2). Both cases underwent intensive cares from the first day of illness, whereas severe neurological impairments were left on discharge...
July 1, 2018: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
#36
REVIEW
Shunli Liu, Liyuan Wang, Xiao Tang Cai, Hui Zhou, Dan Yu, Zhiling Wang
RATIONALE: The case report aims to discuss the clinical symptoms and treatment of encephalopathy caused by a novel syntaxin- binding protein 1 (STXBP1) genetic mutation. PATIENT CONCERNS: The patient, a girl, was born at 38+4 weeks of gestation. She had frequent spasm attacks accompanied by obvious psychomotor development retardation since the neonatal period. Genetic screening identified a novel STXBP1 genetic mutation. DIAGNOSES: Early-onset epileptic encephalopathy with STXBP1 mutation...
May 2018: Medicine (Baltimore)
#37
Haolin Duan, Jing Peng, Miriam Kessi, Fei Yin
Epilepsy of infancy with migrating focal seizures (EIMFS) is a rare type of early-onset epileptic encephalopathy that is characterized by refractory migratory multifocal seizures that migrate between hemispheres. Its etiology is not well known although it is postulated to occur due to channelopathy. The authors report the first case of EIMFS due to a de novo heterozygous mutation in exon 4(c.881C>T missense mutation, p.Ala294Val, NM_172107.2) in KCNQ2 gene which later evolved into infantile spasms. However, it is the second case of EIMFS with KCNQ2 mutation...
2018: Child Neurology Open
#38
JOURNAL ARTICLE
Da-Jyun Su, Jyh-Feng Lu, Li-Ju Lin, Jao-Shwann Liang, Kun-Long Hung
SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). Thus far, no particularly effective treatment is available for severe epileptic encephalopathy caused by SCN2A mutations in children. We present the case of a boy who developed seizures on the third day of life and received a diagnosis of EIMFS based on his clinical presentations and electroencephalography reports...
September 2018: Brain & Development
#39
JOURNAL ARTICLE
María Calderón Romero, Elena Arce Portillo, Mercedes López Lobato, Beatriz Muñoz Cabello, Bárbara Blanco Martínez, Marcos Madruga Garrido, Olga Alonso Luego
INTRODUCTION: West syndrome (WS) is an age-dependent epileptic encephalopathy in which the prognosis varies according to the, not always identified, underlying origin. OBJECTIVES: To define the profile of cryptogenic (a least studied isolated sub-group) WS, in Spain. To study its outcome, response to different treatments, and to establish prognostic factors. PATIENTS AND METHODS: The study included a review of the medical records of 16 patients diagnosed with cryptogenic WS during the period, 2000-2015...
September 2018: Anales de Pediatría: Publicación Oficial de la Asociación Española de Pediatría (A.E.P.)
#40
REVIEW
Simona Balestrini, Sanjay M Sisodiya
BACKGROUND: Epileptic encephalopathies represent the most severe epilepsies, with onset in infancy and childhood and seizures continuing in adulthood in most cases. New genetic causes are being identified at a rapid rate. Treatment is challenging and the overall outcome remains poor. Available targeted treatments, based on the precision medicine approach, are currently few. OBJECTIVE: To provide an overview of the treatment of epileptic encephalopathies with known genetic determinants, including established treatment, anecdotal reports of specific treatment, and potential tailored precision medicine strategies...
2017: Current Pharmaceutical Design
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