• KOLs
  • Schizencephaly

Location & Type arrow_drop_up Concepts arrow_drop_down Orgs arrow_drop_down
#1
Anthony James Barkovich
Anthony James Barkovich
From the Department of Clinical Genetics (D.J.S., R.S., M.W., M.S., G.M.S.M.), ErasmusMC University Medical Center Rotterdam; Department of Child Neurology (M.C.Y.W.) and ...
Known for star star star star star
Brain Injury | Corpus Callosum | White Matter | Magnetic Resonance Imaging
#2
Hirotomo Saitsu
Hirotomo Saitsu
From the Departments of Human Genetics (S.M., M.N., Y.T., N. Miyake, N. Matsumoto, H.S.) and Biochemistry (M. Shiina, K.O.), Yokohama City University Graduate School of ...
Known for star star star star star
Intellectual Disability | Developmental Delay | West Syndrome | Epileptic Encephalopathy

#3
Bernard S. Chang
Bernard S. Chang
Harvard Medical School, United States Beth Israel Deaconess Medical Center, Department of Neurology, Boston, MA, United States
Known for star star star star star_half
Periventricular Nodular Heterotopia | Somatic Mutations | Bilateral Frontoparietal Polymicrogyria | Gray Matter
#4
Naomichi Matsumoto
Naomichi Matsumoto
Yokohama City University Graduate School of Medicine, Human Genet, Yokohama, Japan
Known for star star star star star_half
Intellectual Disability | West Syndrome | Developmental Delay | Epileptic Encephalopathy
#5
Christopher A. Walsh
Christopher A. Walsh
Neurology, Harvard Medical School, Boston, Massachusetts
Known for star star star star star_half
Cerebral Cortex | Neuronal Migration | Periventricular Heterotopia | Somatic Mutations
#6
Kazuhiro Haginoya
Kazuhiro Haginoya
Department of Pediatric Neurology, Takuto Rehabilitation Center for Children, 20 Shishiotoaza, Yumoto, Akiumachi, Taihakuku, 982-0241, Sendai, Japan
Known for star star star star star_half
West Syndrome | Muscular Dystrophy | Corpus Callosotomy | Gabra1 Mutations
#7
Paul David Griffiths
Paul David Griffiths
Academic Unit of Radiology, University of Sheffield, Floor C Royal Hallamshire Hospital, S10 2JF, Sheffield, England
Known for star star star star star_half
Brain Abnormalities | Diagnostic Accuracy | Corpus Callosum | Ganglionic Eminence Anomalies
#8
Gary M. Shaw
Gary M. Shaw
March of Dimes Birth Defect Foundation/California Department of Health Services, California Birth Defects Monitoring Program, Berkeley (Drs Carmichael and Shaw, and Ms Laurent)
Known for star star star star star_half
Spina Bifida | Birth Defects | Orofacial Clefts | Folic Acid
#9
Satoko Miyatake
Satoko Miyatake
Yokohama City University Graduate School of Medicine, Department of Human Genetics, 3-9 Fukuura, Kanazawa-ku, Yokohama-shi, Kanagawa, 236-0004, Japan
Known for star star star star star_half
Intellectual Disability | Epileptic Encephalopathy | Mental Retardation | Cerebellar Atrophy
#10
Noriko Togashi
Noriko Togashi
Department of Pediatric Neurology, Miyagi Children's Hospital Hospital, Sendai 989-3126, Japan.
Known for star star star star star_half
West Syndrome | Miyagi Prefecture | Cerebral Palsy | Subtraction Ictal Spect
#11
Noriko Aida
Noriko Aida
Radiology (N.A.), Kanagawa Children's Medical Center, Yokohama, Japan
Known for star star star star star_half
Radiation Therapy | Charge Syndrome | Neurological Complications | Acute Encephalopathy
#12
Yoshinori Tsurusaki
Yoshinori Tsurusaki
Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Kanagawa, 236‐0004, Japan Faculty of Nutritional Science, Sagami Women's ...
Known for star star star star star_half
Endogenous Regucalcin | Intellectual Disability | Synthase Activity | Novo Mutations
#13
Giorgio Stefano Battaglia
Giorgio Stefano Battaglia
Unit of Molecular Neuroanatomy and Pathogenesis, Carlo Besta Neurological Institute Foundation, Milan, Italy.
Known for star star star star star_half
Periventricular Nodular Heterotopia | Esophageal Cancer | Cortical Dysplasia | Status Epilepticus
#14
Tiziana Granata*
Tiziana Granata*
Division of Child Neurology, Foundation IRCCS Neurological Institute “Carlo Besta”, Milan, Italy
Known for star star star star star_half
Dravet Syndrome | Scn1a Mutations | Focal Seizures | Rasmussen Encephalitis
#15
Ewa Kluczewska
Ewa Kluczewska
Department of Radiology and Radiodiagnostics, School of Medicine with the Division of Dentistry in Zabrze, Medical University of Silesia, Katowice, Poland.
Known for star star star star star_half
Pineal Cysts | Central Nervous | Corpus Callosum | Neuropathic Pain
#16
Ewa Jamroz
Ewa Jamroz
Child Neurology Department, Medical University of Silesia, Katowice, Poland,
Known for star star star star star_half
Joubert Syndrome | Surveyor Nuclease | Congenital Disorders | Cerebral Form
#17
Hitoshi Osaka
Hitoshi Osaka
Department of Degenerative Neurological Diseases, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan Information and Cellular ...
Known for star star star star star_border
Leigh Syndrome | Proteolipid Protein | Nicotinic Acetylcholine Receptor | Novo Mutations

 

Recently Asked Questions

View all FAQs

Pericoronitis Pericoronitis is a condition that can affect the Wisdom Teeth and cause inflammation of the gum tissue. While most cases of pericoronitis are mild and can...

 

Chlorpromazine Chlorpromazine is a psychiatric medication. It works by helping to restore the balance of certain natural chemicals in the brain. This medication can...

 

Rolandic Epilepsy Rolandic epilepsy, also known as benign focal epilepsy of childhood with centrotemporal spikes, is a type of epilepsy that begins in childhood. The disorder...

 

Childhood Psoriasis Children with psoriasis typically experience their first outbreak before the age of 10. The condition is characterized by raised, red patches of skin...

 

Splenic sequestration is a medical emergency that can occur in people with sickle cell disease. It happens when a large number of sickled cells suddenly...

 

Phenotypic Spectrum Of Col4a1 Mutations: Porencephaly To Schizencephaly

[ PUBLICATION ] ... with schizencephaly, which may be similarly caused by disturbed vascular supply leading to cerebral degeneration, but can be distinguished depending on time of insult. RESULTS: COL4A1 ...
Known for star star star star star
Col4a1 Mutations | Hemolytic Anemia | Cerebral Vascular | Porencephaly Schizencephaly

Neuroepidemiology Of Porencephaly, Schizencephaly, And Hydranencephaly In Miyagi...

[ PUBLICATION ] ... porencephaly, schizencephaly, and hydranencephaly have been conducted in Japan or other Asian countries. We performed a neuroepidemiologic analysis to elucidate the incidence of ...
Known for star star star star star
Miyagi Prefecture | Response Rate | Orthopedic Surgery | Municipal Hospitals

Candidate Gene Sequencing Of Lhx2, Hesx1, And Sox2 In A Large Schizencephaly Cohort

[ PUBLICATION ] ... schiz
Known for star star star star star_half
Gene Sequencing | Septo-Optic Dysplasia | Schizencephaly Septo | Pathogenic Mutations

Malignant Hyperthermia And Cerebral Venous Sinus Thrombosis After...

[ PUBLICATION ] BACKGROUND: Schizencephaly is a rare congenital central nervous system malformation characterized by linear, thickened clefts of the cerebral mantle. Recently, germline mutations in collagen ...
Known for star star star star star_half
Malignant Hyperthermia | Ventriculoperitoneal Shunt | Col4a1 Mutation | Cerebral Venous

Diagnostic Imaging And Problems Of Schizencephaly

[ PUBLICATION ] BACKGROUND: Schizencephaly is a rare developmental malformation of the central nervous system associated with cell migration disturbances. Schizencephaly can be uni- or bilateral and is divided ...
Known for star star star star star_half
Diagnostic Imaging | Neurological Symptoms | Magnetic Resonance | Central Nervous

Comprehensive Emx2 Genotyping Of A Large Schizencephaly Case Series

[ PUBLICATION ] ... schizencephaly.
Known for star star star star star_half
Emx2 Mutations | Initial Reports | Schizencephaly Series | Cerebral Cortex

Motor Organization In Schizencephaly: Outcomes Of Transcranial Magnetic...

[ PUBLICATION ] Objective: Schizencephaly is a rare congenital malformation that causes motor impairment. To determine the treatment strategy, each domain of the motor functions should be appropriately ...
Known for star star star star star_border
Hand Function | Transcranial Magnetic Stimulation | Tensor Imaging | Color Map

Schizencephaly Accompanied By Occipital Encephalocele And Deletion Of Chromosome...

[ PUBLICATION ] Background: Schizencephaly is a neuronal migration anomaly characterized by presence of a cleft between ependymal layer of the ventricle and pia mater of the cerebral cortex. It may be ...
Known for star star star star star_border
Occipital Encephalocele | Schizencephaly Accompanied | Dysmorphic Facies | Corpus Callosum

Novel Col4a1 Mutation In A Fetus With Early Prenatal Onset Of Schizencephaly

[ PUBLICATION ] ... and schizencephaly are congenital brain disorders that can be caused by COL4A1 mutations, though the underlying mechanism and developmental processes are poorly understood. Here, we report ...
Known for star star star star star_border
Col4a1 Mutation | Early Prenatal Onset | Fetal Ultrasonography | Developmental Processes

A Rare Case Of Super-Refractory Epileptic Status In Pregnant Woman: Schizencephaly

[ PUBLICATION ]
Known for star star star star star_border
Pregnant Woman | Super-Refractory Epileptic Status | Epileptic Seizures | Accurate Lesional