benign adult familial myoclonic epilepsy

良性成人型家族性ミオクローヌスてんかん

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• 1. 国際抗てんかん連盟（ILAE）によるてんかん発作およびてんかんの分類ilae classification of seizures and epilepsy [show details]
  …syndrome; Myoclonic epilepsy of infancy; Benign infantile epilepsy; Benign familial infantile epilepsy; Dravet syndrome; Myoclonic encephalopathy in nonprogressive disorders; Epilepsy syndromes of childhood …
• 2. 成人におけるてんかんのマネージメントの概要overview of the management of epilepsy in adults [show details]
  …patient seizure type and to avoid drugs that may precipitate or aggravate seizures; the latter is most relevant in patients with genetic generalized epilepsies such as juvenile myoclonic epilepsy or absence… still having seizures after two antiseizure drug trials or more than one year of treatment. Established treatment options for medically refractory epilepsy in adults include epilepsy surgery and…
• 3. 成人における痙攣性のてんかん重積状態：分類、臨床症状、および診断convulsive status epilepticus in adults classification clinical features and diagnosis [show details]
  … MSE occurs in some relatively "benign," often genetic epilepsy syndromes in which myoclonus is a characteristic finding, such as in juvenile myoclonic epilepsy (JME) .… Later-onset myoclonic seizures can be seen in adults with Down syndrome and Alzheimer disease .…
• 4. 若年性ミオクローヌスてんかんjuvenile myoclonic epilepsy [show details]
  … JME patients, and myoclonic jerks and GTCS without photic stimulation in IPOE patients . Progressive myoclonic epilepsy – Symptomatic myoclonus is a major feature of the rare, genetically heterogeneous syndrome …
• 5. 睡眠関連てんかん症候群sleep related epilepsy syndromes [show details]
  … Genetic generalized epilepsy syndromes such as juvenile myoclonic epilepsy (JME) and generalized tonic-clonic seizures upon awakening often produce myoclonic or generalized tonic-clonic seizures shortly… aggravate seizure burden, and patients with epilepsy are at increased risk for a range of sleep disorders, including sleep-related breathing disorders and insomnia. Several benign epilepsies of early…

English Journal

• Detecting a long insertion variant in SAMD12 by SMRT sequencing: implications of long-read whole-genome sequencing for repeat expansion diseases.

• Mizuguchi T, Toyota T, Adachi H, Miyake N, Matsumoto N, Miyatake S.
• Journal of human genetics. 2019 Mar;64(3)191-197.
• Long-read sequencing technology is now capable of reading single-molecule DNA with an average read length of more than 10 kb, fully enabling the coverage of large structural variations (SVs). This advantage may pave the way for the detection of unprecedented SVs as well as repeat expansions. Patho
• PMID 30559482

• Novel SCN2A mutation in a family associated with juvenile-onset myoclonus: Case report.

• Huang Q, Yu L, Ma M, Qi H, Wu Y.
• Medicine. 2019 Feb;98(8)e14698.
• The phenotypic spectrum caused by SCN2A mutations includes benign neonatal/infantile seizures, Ohtahara syndrome, infantile spasms, West syndrome, and other unclassified epileptic phenotypes. Mutations in SCN2A have been implicated in neonatal seizure cases. Here, we described a Chinese family with
• PMID 30813219

• Sleep is associated with reduction of epileptiform discharges in benign adult familial myoclonus epilepsy.

• Hitomi T, Inouchi M, Takeyama H, Kobayashi K, Sultana S, Inoue T, Nakayama Y, Shimotake A, Matsuhashi M, Matsumoto R, Chin K, Takahashi R, Ikeda A.
• Epilepsy & behavior case reports. 2019 ;11()18-21.
• To clarify the effects of sleep on cortical irritability in benign adult familial myoclonus epilepsy (BAFME), we retrospectively compared epileptiform discharges of electroencephalographies (EEGs) between awake and sleep periods in 5 patients (mean age: 49.6 ± 20.3 years). We also analyzed po
• PMID 30591883

Japanese Journal

• Benign adult familial myoclonic epilepsy(BAFME) が疑われた63歳女性例

• 牧岡 幸樹,佐藤 正行,平柳 公利,池田 佳生
• The Kitakanto medical journal = 北関東医学 64(3), 253-253, 2014-08-01
• NAID 120005624131

• 良性成人型家族性ミオクローヌスてんかんに伴う振戦様ミオクローヌスにプリミドンの追加投与が有効であった一症例

• 茂木 太一,吉川 大輝,曽根 大地,村田 佳子,渡邉 雅子,渡邉 裕貴
• てんかん研究 32(1), 31-38, 2014
• … 良性成人型家族性ミオクローヌスてんかん（benign adult familial myoclonic epilepsy：BAFME）における難治性の振戦様ミオクローヌスにプリミドンの追加投与が有効であった症例を報告する。 …
• NAID 130004434624

• Remapping and mutation analysis of benign adult familial myoclonic epilepsy in a Japanese pedigree

• Mori Satsuki,Nakamura Masayuki,Yasuda Takeshi [他],UENO Shu-ichi,KANEKO Sunao,SANO Akira
• Journal of human genetics 56(10), 742-747, 2011-10-01
• NAID 10030661426

Related Links

• Benign adult familial myoclonic epilepsy - MedLink

• Benign adult familial myoclonic epilepsy usually presents in the second decade of life with a mild hand tremor that is myoclonus-exacerbated by fatigue or emotional stress. Myoclonus usually appears around the same age and ...

• Orphanet: Benign adult familial myoclonic epilepsy

Disease definition Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or ...

• 良性成人型家族性ミオクローヌスてんかん（BAFME）の最近の ...

54：1142 はじめに 良性成人型家族性ミオクローヌスてんかん（benign adult familial myoclonus epilepsy; BAFME）は，皮質振戦と呼ばれる 振戦様の微細なミオクローヌスと数年に1 回程度の低頻度の全 般てんかん発作を主徴とする疾患で ...

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リンク元	「良性成人型家族性ミオクローヌスてんかん」
関連記事	「adult」「familial」「myoclonic epilepsy」「benign」「epilepsy」

「良性成人型家族性ミオクローヌスてんかん」

　　[★]

英

benign adult familial myoclonic epilepsy

同

BAFME

関

皮質反射性ミオクローヌス

「adult」

　　[★]

• n.

• 成人、成体、大人

• adj.

• 成体型の、成人型の、大人の、成人性の

関

adult human、adult type

　 　 　 　

「familial」

　　[★]

• adj.

• 家族性の、家系性の、家族の

関

family、family member、household、kindred

　 　 　

「myoclonic epilepsy」

　　[★]

ミオクローヌスてんかん、ミオクローヌス性てんかん

関

myoclonus epilepsy

「benign」

　　[★]

• adj.

• 良性の、穏和な

関

benignant、mild、mildly

　 　 　 　

「epilepsy」

　　[★] てんかん epilepsy

関

てんかん発作 seizure