Akie Okayama

Life-threatening muscle complications of COL4A1-related disorder

Satomi Okano, Sorachi Shimada, Ryosuke Tanaka, Akie Okayama et autres

jp, us (code pays fourni par la source)

Congenital basal meningoceles with different outcomes: a case series

Satomi Okano, Ryosuke Tanaka, Akie Okayama, Etsushi Tsuchida et autres

BACKGROUND: Basal meningoceles are rare congenital defects and often clinically occult until they result in life-threatening complications. Therefore, it is important to know the diagnostic clues to early diagnosis. CASE PRESENTATION: We describe three cases of congenital basal meningocele in a 3-year-old …

jp (code pays fourni par la source)

Evolution into moyamoya disease in an infant with internal carotid artery aneurysms

Ryosuke Tanaka, Satoru Takahashi, Satomi Okano, Akie Okayama et autres

INTRODUCTION: Moyamoya disease (MMD) is characterized by progressive stenosis and occlusion in the terminal portion of both internal carotid arteries (ICAs) and the formation of an abnormal vascular network. Because of the fragile structure of the collateral vessels, MMD is frequently accompanied …

jp (code pays fourni par la source)

School refusal as a sign of underlying developmental disorders: patient characteristics and prognostic factors

Norihiro Suzuki, Akie Okayama, Junko Ohinata, Akira Sasaki et autres

Characterization of intragenic tandem duplication in the PAFAH1B1 gene leading to isolated lissencephaly sequence

Satoru Takahashi, Ryosuke Tanaka, Satomi Okano, Akie Okayama et autres

BACKGROUND: Genetic aberrations in PAFAH1B1 result in isolated lissencephaly sequence (ILS), a neuronal migration disorder associated with severe mental retardation and intractable epilepsy. Approximately 60 % of patients with ILS show a 17p13.3 deletion or an intragenic variation of PAFAH1B1 that can …

jp (code pays fourni par la source)

Electroclinical features of epileptic encephalopathy caused by SCN8A mutation

Satoru Takahashi, Shiho Yamamoto, Akie Okayama, Akiko Araki et autres

Voltage-gated sodium channel Nav 1.6, encoded by the gene SCN8A, plays a crucial role in controlling neuronal excitability. SCN8A mutations that cause increased channel activity are associated with seizures. We describe a patient with epileptic encephalopathy caused by de novo SCN8A mutation …

jp (code pays fourni par la source)

Human herpesvirus-6 infection-associated acute encephalopathy without skin rash

Shiho Yamamoto, Satoru Takahashi, Ryosuke Tanaka, Akie Okayama et autres

jp (code pays fourni par la source)

Focal frontal epileptiform discharges in a patient with eyelid myoclonia and absence seizures

Satoru Takahashi, Shiho Yamamoto, Ryosuke Tanaka, Akie Okayama et autres

Eyelid myoclonia with absences is classified as a unique type of generalized seizure. Its pathogenesis is proposed to involve the functional abnormalities in cortical-subcortical networks. Here, we describe the case of a 7-year-old boy who had eyelid myoclonia with absences, along with …

jp (code pays fourni par la source)

Glycemic control and motor development in a patient with intermediate DEND

Hideharu Oka, Shigeru Suzuki, Akiko Furuya, Kumihiro Matsuo et autres

The most common cause of neonatal diabetes, KCNJ11 gene mutation, can manifest as a neurological disorder. The most severe form consists of a constellation of developmental delay, epilepsy, and neonatal diabetes (DEND). Intermediate DEND (iDEND) refers to a milder presentation without epilepsy. …

jp (code pays fourni par la source)

Benign infantile convulsion as a diagnostic clue of paroxysmal kinesigenic dyskinesia: a case series

Naoya Matsumoto, Satoru Takahashi, Akie Okayama, Akiko Araki et autres

INTRODUCTION: Paroxysmal kinesigenic dyskinesia is characterized by sudden attacks of involuntary movements. It is often misdiagnosed clinically as psychogenic illness, which distresses the patients to a great extent. A correct diagnosis will improve the quality of life in patients with paroxysmal kinesigenic …

jp (code pays fourni par la source)

Improved prefrontal activity in AD/HD children treated with atomoxetine: A NIRS study

Akiko Araki, Masanaga Ikegami, Akie Okayama, Naoya Matsumoto et autres

jp (code pays fourni par la source)

A Novel Mutation in the SCN4A Gene in a Japanese Family with Paramyotonia

Shiho Yamamoto, Ryosuke Tanaka, Akie Okayama, Akiko Araki et autres

Paramyotoniacongenita is an autosomal-dominant muscle disease caused by missense mutations in SCN4A, the gene enconding the alpha subunit of skeletal muscle sodium channel. It is clinically characterized by paradoxical myotonia, an attack of muscle stiffness that is aggravated by repeated activity, as …