Results 111 to 120 of about 49,640 (282)

Genetic landscape of patients with atypical absence status epilepticus: A systematic review

Epilepsia Open, EarlyView.
Abstract Atypical absence status epilepticus (AASE) is a rare subtype of nonconvulsive status epilepticus (NCSE), characterized by clouding of consciousness and continuous or fluctuating epileptiform activity, generally at a frequency below 3 Hz. Only sparse literature exists on the genetic conditions associated with it.
Maria Cristina Cioclu, Giada Giovannini, Stefano Meletti   +2 more
wiley   +1 more source

Severe congenital microcephaly with AP4M1 mutation, a case report

BMC Medical Genetics, 2017
Background Autosomal recessive defects of either the B1, E1, M1 or S1 subunit of the Adaptor Protein complex-4 (AP4) are characterized by developmental delay, severe intellectual disability, spasticity, and occasionally mild to moderate microcephaly of ...
Sarah Duerinckx, Helene Verhelst, Camille Perazzolo, Philippe David, Laurence Desmyter, Isabelle Pirson, Marc Abramowicz   +6 more
doaj   +1 more source

Microcephaly after HI Encephalopathy

, 1994
The development of microcephaly after hypoxic-ischemic cerebral injury in the full-term newborn was studied at the University of British Columbia, Vancouver ...
J Gordon Millichap
core   +1 more source

From regulatory mechanisms to cutting‐edge applications: Research progress of ultrasound, electrical, magnetic, and optical stimulation in neural modulation

Journal of Intelligent Medicine, EarlyView.
Abstract In recent years, the clinical treatment and symptom management of neurological disorders have faced significant challenges due to the high complexity of the nervous system's structure and function. Against this backdrop, physical stimulation techniques have emerged as a vital complementary approach to traditional pharmacological treatments and
Wanying Li, Liqun Chen
wiley   +1 more source

Surveillance for microcephaly [PDF]

surveillance-microcephaly-webinar ...

core  

Lennox–Gastaut syndrome in a patient with biallelic TELO2 variants

Epileptic Disorders, EarlyView.
Melissa Odabassian, Kenneth A. Myers
wiley   +1 more source

MICROCEPHALY IN NEWBORNS INFECTED BY ZIKA VIRUS

, 2018
The relationship between Zika virus infection and increasing cases of microcephaly motivated the WHO to declare State of Public Health Emergency of International Importance in 2016.
Oliveira, Marivânia Gonçalves da Silva e, Figueiredo, Gloria Lucia Alves   +1 more
core   +1 more source

Movement Disorders in Developmental and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Monogenic developmental and epileptic encephalopathies (DEE) frequently feature co‐occurring movement disorders. Gene discovery has expanded epilepsy‐dyskinesia syndromes (EDS) from classic associations such as stereotypies in Rett syndrome to PRRT2‐related infantile seizures with paroxysmal dyskinesia and crouched gait in SCN1A ...
Shekeeb Mohammad, Darius Ebrahimi‐Fakhari, Hugo Morales‐Briceno   +2 more
wiley   +1 more source

Data‐Driven Insights into Hyperkinetic Disorders in Neurodevelopmental Syndromes and Epileptic Encephalopathies

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Childhood‐onset hyperkinetic movement disorders occur in a range of genetic conditions. Recently, there has been an increase in recognition of hyperkinetic movement disorders, mainly dystonia, chorea and dyskinesia, with monogenic conditions associated with neurodevelopmental delay (NDD) and also with developmental and epileptic ...
Hugo Morales‐Briceño, Shekeeb S. Mohammad, Rajeshwar Reddy Angiti, Velda Han, Michel Tchan, Russell C. Dale, Victor S.C. Fung   +6 more
wiley   +1 more source

Emerg Infect Dis

We studied the clinical characteristics for 104 infants born with microcephaly in the delivery hospitals of Pernambuco State, Brazil, during 2015. Testing is ongoing to exclude known infectious causes.

core