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Topic Review
Sporadic Hemiplegic Migraine
Sporadic hemiplegic migraine is a rare form of migraine headache. Migraines typically cause intense, throbbing pain in one area of the head. Some people with migraines also experience nausea, vomiting, and sensitivity to light and sound. These recurrent headaches typically begin in childhood or adolescence and can be triggered by certain foods, emotional stress, and minor head trauma. Each headache may last from a few hours to a few days.
  • 921
  • 23 Dec 2020
Topic Review
LIPA Gene
Lipase A, lysosomal acid type
  • 921
  • 23 Dec 2020
Topic Review
Familial Cold Autoinflammatory Syndrome
Familial cold autoinflammatory syndrome is a condition that causes episodes of fever, skin rash, and joint pain after exposure to cold temperatures. These episodes usually begin in infancy and occur throughout life.
  • 921
  • 25 Dec 2020
Topic Review
Retrospective Genetic Analysis in Sweet Watermelon
Understanding the genetic basis of a crop’s qualitative and quantitative traits is vital to designing market preferred varieties. Sweet watermelon [Citrullus lanatus (Thunb.) Matsum. and Nakai var. lanatus; 2n = 2x = 22] is an important cucurbit crop belonging to the family Cucurbitaceae of the genus Citrullus. 
  • 921
  • 21 Jul 2022
Topic Review
MMACHC Gene
metabolism of cobalamin associated C
  • 920
  • 22 Dec 2020
Topic Review
5q31.3 Microdeletion Syndrome
5q31.3 microdeletion syndrome is a condition characterized by severely delayed development of speech and motor skills, such as walking. Beginning in infancy, affected individuals also have weak muscle tone (hypotonia), feeding difficulties, and breathing problems. Breathing problems and difficulty swallowing (dysphagia) can be life-threatening.
  • 920
  • 23 Dec 2020
Topic Review
KMT2D Gene
Lysine methyltransferase 2D
  • 920
  • 23 Dec 2020
Topic Review
Acute Promyelocytic Leukemia
Acute promyelocytic leukemia is a form of acute myeloid leukemia, a cancer of the blood-forming tissue (bone marrow). In normal bone marrow, hematopoietic stem cells produce red blood cells (erythrocytes) that carry oxygen, white blood cells (leukocytes) that protect the body from infection, and platelets (thrombocytes) that are involved in blood clotting. In acute promyelocytic leukemia, immature white blood cells called promyelocytes accumulate in the bone marrow. The overgrowth of promyelocytes leads to a shortage of normal white and red blood cells and platelets in the body, which causes many of the signs and symptoms of the condition.
  • 920
  • 24 Dec 2020
Topic Review
Chromosome 6
Humans normally have 46 chromosomes in each cell, divided into 23 pairs. Two copies of chromosome 6, one copy inherited from each parent, form one of the pairs.
  • 920
  • 24 Dec 2020
Topic Review
CHRNA2 Gene
cholinergic receptor nicotinic alpha 2 subunit
  • 920
  • 24 Dec 2020
Topic Review
Desmosterolosis
Desmosterolosis is a condition that is characterized by neurological problems, such as brain abnormalities and developmental delay, and can also include other signs and symptoms.
  • 920
  • 24 Dec 2020
Topic Review
NSD2 Gene
nuclear receptor binding SET domain protein 2
  • 920
  • 24 Dec 2020
Topic Review
Familial Porencephaly
Familial porencephaly is part of a group of conditions called the COL4A1-related disorders.
  • 920
  • 25 Dec 2020
Topic Review
Epigenetic Aspects of Rare Diseases
Epigenetics plays an important role in pathogenicity since it regulates basic cellular functions, such as gene expression, DNA damage, chromatin topology, and chromosomal organization. Rare diseases affect more than 300 million people worldwide.
  • 920
  • 05 Aug 2022
Topic Review
Supravalvular Aortic Stenosis
Supravalvular aortic stenosis (SVAS) is a heart defect that develops before birth.
  • 919
  • 23 Dec 2020
Topic Review
Vibratory Urticaria
Vibratory urticaria is a condition in which exposing the skin to vibration, repetitive stretching, or friction results in allergy symptoms such as hives (urticaria), swelling (angioedema), redness (erythema), and itching (pruritus) in the affected area.
  • 919
  • 23 Dec 2020
Topic Review
NOD2 Gene
nucleotide binding oligomerization domain containing 2
  • 919
  • 24 Dec 2020
Topic Review
PABPN1 Gene
poly(A) binding protein nuclear 1
  • 919
  • 24 Dec 2020
Topic Review
GATA1 Gene
GATA binding protein 1
  • 919
  • 25 Dec 2020
Topic Review
Attention-Deficit/Hyperactivity Disorder
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.
  • 919
  • 31 Dec 2020
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